MICA: MRC Centre for Neuromuscular Diseases
Lead Research Organisation:
University College London
Department Name: Institute of Neurology
Abstract
Neuromuscular diseases (NMD) are an important group of disabling conditions affecting about 150,000 children and adults in the UK. They are caused by impairment of peripheral nerve and/or skeletal muscle function. Patients with these diseases develop muscle weakness and the severity can range from death in childhood or early adult life through to life long disability & dependence. Many patients also have heart and breathing muscle weakness which can add to disability and sometimes be fatal. These NMD conditions are commonly genetic and may run in families. They can also be acquired-for example through antibody attack as in "autoimmune" NMD or due to premature degeneration of muscle. Genetic examples include muscular dystrophy (~1 in 3500), Charcot Marie Tooth (CMT) neuropathy (~1 in 2500) and mitochondrial diseases (~1 in 5000). Acquired examples include chronic nerve inflammation (~1 in 1500) and a muscle degeneration/inflammation condition called inclusion body myositis (~1 in 10,000).
It is clear that NMD represent an important unmet health burden for the nation. However, relative to other neurological diseases such as epilepsy and multiple sclerosis, NMD have received less attention by government and other UK funding bodies. This is despite the excellent clinical infrastructure provided by several large clinical neuromuscular centres and the nationally commissioned NHS funding for care and diagnosis of some NMD lead by MRC Centre PI's (eg congenital muscular dystrophy, channelopathies and mitochondrial diseases). Furthermore, there has been significant progress in NMD discovery science, frequently lead by internationally high profile UK clinicians and scientists, but translation of this scientific discovery into clear benefit for UK patients has been disappointing so far.
We set up this MRC Centre to develop ways to bridge this "translational gap" between scientific discovery and patient benefit. We identified six main reasons (obstacles) why scientific discoveries were not clearly benefiting patients. We developed specific core activities to overcome each obstacle. Most notably we found there was a lack of UK trials culture for these conditions. That means that there were not many trials happening, doctors treating patients did not think there was much that could be done, and patients were not being given the opportunity to get involved in the research & trials that were happening. By setting up key core activites, in just four years, we have shifted the situation towards a trial and experimental medicine culture in the UK. Key activities we developed & which are now valuable UK available resources:
1. Stratified cohorts: collections of patients eligible for entry into trials and research
2. Experimental trials support: a system of coordination and support to enable testing of new therapies in patients
3. Neuromuscular human cell biobank: collecting muscle cells from patients to test new therapies
4. MRI biomarker studies: using MRI scans to accurately measure muscles and assess if experimental treatments are working
5. Training programmes to train more young scientists to undertake trials and develop new therapies
6. Getting clinicians & animal scientists working closely together to work out which are the best cell & animal models on which to test new therapies
These core activities & our clinician scientist networks have resulted in a ten-fold increase in clinical trials & an even larger increase in patients entered into research cohorts. We now want to build on this success to embed a trials culture in UK practice.
In the UK there is no other centre that focuses on systematically linking discovery research to experimental medicine for NMD. This MRC Centre has lead the UK efforts in the last four years. The mission of a renewed MRC Centre is to achieve impact by translating science into experimental medicine & find treatments for adults & children with disabling/fatal neuromuscular diseases.
It is clear that NMD represent an important unmet health burden for the nation. However, relative to other neurological diseases such as epilepsy and multiple sclerosis, NMD have received less attention by government and other UK funding bodies. This is despite the excellent clinical infrastructure provided by several large clinical neuromuscular centres and the nationally commissioned NHS funding for care and diagnosis of some NMD lead by MRC Centre PI's (eg congenital muscular dystrophy, channelopathies and mitochondrial diseases). Furthermore, there has been significant progress in NMD discovery science, frequently lead by internationally high profile UK clinicians and scientists, but translation of this scientific discovery into clear benefit for UK patients has been disappointing so far.
We set up this MRC Centre to develop ways to bridge this "translational gap" between scientific discovery and patient benefit. We identified six main reasons (obstacles) why scientific discoveries were not clearly benefiting patients. We developed specific core activities to overcome each obstacle. Most notably we found there was a lack of UK trials culture for these conditions. That means that there were not many trials happening, doctors treating patients did not think there was much that could be done, and patients were not being given the opportunity to get involved in the research & trials that were happening. By setting up key core activites, in just four years, we have shifted the situation towards a trial and experimental medicine culture in the UK. Key activities we developed & which are now valuable UK available resources:
1. Stratified cohorts: collections of patients eligible for entry into trials and research
2. Experimental trials support: a system of coordination and support to enable testing of new therapies in patients
3. Neuromuscular human cell biobank: collecting muscle cells from patients to test new therapies
4. MRI biomarker studies: using MRI scans to accurately measure muscles and assess if experimental treatments are working
5. Training programmes to train more young scientists to undertake trials and develop new therapies
6. Getting clinicians & animal scientists working closely together to work out which are the best cell & animal models on which to test new therapies
These core activities & our clinician scientist networks have resulted in a ten-fold increase in clinical trials & an even larger increase in patients entered into research cohorts. We now want to build on this success to embed a trials culture in UK practice.
In the UK there is no other centre that focuses on systematically linking discovery research to experimental medicine for NMD. This MRC Centre has lead the UK efforts in the last four years. The mission of a renewed MRC Centre is to achieve impact by translating science into experimental medicine & find treatments for adults & children with disabling/fatal neuromuscular diseases.
Technical Summary
The Centre mission is to translate science into experimental medicine & new treatments for children & adults with neuromuscular diseases.
We will:
1. Deliver new experimental medicine studies with clinical impact.
2. Develop the core activities/resources that underpin translation including stratified cohorts, MRI biomarkers, neuromuscular biobank, preclinical models & capacity building PhD translational research training programmes.
3. Add value to major programmes of separately funded (>£60m) Centre PI discovery science.
Specific technical objectives for the Centre:
1. New experimental therapies: we will deliver a new experimental therapy study in each of five target diseases (muscular dystrophy, channelopathy, neuropathy, inclusion body myositis & mitochondrial disease).
2. Antisense therapy: we will target other dystrophin gene exons using different antisense chemistries & identify new disease targets.
3. Stem cell therapies: we will develop strategies to correct autologous DMD stem cells with a lentiviral vector & assess safety & efficacy using myogenic stem cells injected into a single human muscle. We will develop a safe efficient method to transduce stem cells for systemic delivery.
4. Exercise therapy: we will address key experimental questions in relation to the molecular basis of exercise benefit. We will asses safety & efficacy of exercise in dystrophy, inclusion body myositis, mitochondrial disease & neuropathy.
5. Discover new genes: we will use whole exome next generation DNA sequencing to identify new genes & therefore new therapy targets & new biomarkers in the five target diseases.
6. Industry partnerships: we will build on & add additional successful industry links to 1) develop new experimental therapies eg new antisense chemistries 2) reprofile licensed drugs eg retigabine in muscle channelopathies & bezafibrate in mitochondrial disease and 3) use industry drug libraries to screen animal / biobank cell preclinical models.
We will:
1. Deliver new experimental medicine studies with clinical impact.
2. Develop the core activities/resources that underpin translation including stratified cohorts, MRI biomarkers, neuromuscular biobank, preclinical models & capacity building PhD translational research training programmes.
3. Add value to major programmes of separately funded (>£60m) Centre PI discovery science.
Specific technical objectives for the Centre:
1. New experimental therapies: we will deliver a new experimental therapy study in each of five target diseases (muscular dystrophy, channelopathy, neuropathy, inclusion body myositis & mitochondrial disease).
2. Antisense therapy: we will target other dystrophin gene exons using different antisense chemistries & identify new disease targets.
3. Stem cell therapies: we will develop strategies to correct autologous DMD stem cells with a lentiviral vector & assess safety & efficacy using myogenic stem cells injected into a single human muscle. We will develop a safe efficient method to transduce stem cells for systemic delivery.
4. Exercise therapy: we will address key experimental questions in relation to the molecular basis of exercise benefit. We will asses safety & efficacy of exercise in dystrophy, inclusion body myositis, mitochondrial disease & neuropathy.
5. Discover new genes: we will use whole exome next generation DNA sequencing to identify new genes & therefore new therapy targets & new biomarkers in the five target diseases.
6. Industry partnerships: we will build on & add additional successful industry links to 1) develop new experimental therapies eg new antisense chemistries 2) reprofile licensed drugs eg retigabine in muscle channelopathies & bezafibrate in mitochondrial disease and 3) use industry drug libraries to screen animal / biobank cell preclinical models.
Planned Impact
There are particular challenges faced in the field of NMD. Challenges apply across stakeholder groups, and impact in all of these areas will be achieved through the outputs of the MRC Neuromuscular Centre.
The affected patients themselves and the patient organisations who represent them face uncertain access to diagnosis and care, have limited access to experimental clinical trials and the majority are without effective or curative therapies. The clinical and academic groups who work with NMD require resources (such as the MRC Centre biobank) and know-how to underpin delivery of care and translational research. The policy makers who determine care delivery in this area need information on which to base health recommendations. Industry is a recent partner in rare disease research, with industrial partners frequently lacking knowledge in the disease areas and perceiving that the field lacks "trial readiness".
By targeting the needs of these distinct stakeholder groups, the MRC Centre will provide outputs which will promote health and wellbeing in this patient group as well as promoting UK international competitiveness in this research field. Strong relationships are already in place to ensure that impact can be maximized. These include key roles for the Centre PIs in patient organisations and patient organization involvement in research design and oversight; leading roles of the Centre PIs in clinical and academic organizations; identified key areas of liaison with the policy makers involved in rare disease public health decision making and many links to industry (as detailed in Pathway to Impact).
Patients and patient organisations will benefit from the experimental medicine studies and increased trial activity, which is aimed at defining better therapeutic strategies. This will lead to the development of better strategies for diagnosis and treatment of these currently incurable disorders with ultimate impact on health, quality of life and societal benefit via greater participation of this patient group in their communities. Underpinning the experimental medicine activity of the Centre will be the development of stratified cohorts and natural history studies (as highlighted in the new MRC Stratified Medicine call), enabling personalized medicine and a much larger group of patients to contribute to experimental clinical studies and access standardized procedures for care and assessment.
The extension of these studies to new collaborating clinical colleagues across the country by MRC Centre-designed studies continuing to achieve NIHR portfolio adoption will provide tools/resources to greater numbers of clinicians involved in delivery of NMD care while the expertise generated by the MRC Centre will be available for the current planning process for specialized commissioning and rare disease public health policy development. On the academic side, the availability of the resources of the MRC Centre, including the biobanks, stratified cohorts and experimental medicine know how will increase the UK competitiveness for the development of research in this area.
Policy makers will have access to clearer and more harmonized guidance on the management of these patient groups which can be applied to healthcare planning both in the UK in the context of specialized commissioning and in the EU through its rare disease strategy.
Stratified cohorts, research know-how and a strategic programme of preclinical research provide a conducive environment for increased industry engagement with the presence of trial expertise, ready access to rare patients and experimental resources. In addition to interaction with industry for the initiation of industry sponsored studies, the research programmes undertaken in the Centre will identify targets for new areas of industrial exploitation.
The affected patients themselves and the patient organisations who represent them face uncertain access to diagnosis and care, have limited access to experimental clinical trials and the majority are without effective or curative therapies. The clinical and academic groups who work with NMD require resources (such as the MRC Centre biobank) and know-how to underpin delivery of care and translational research. The policy makers who determine care delivery in this area need information on which to base health recommendations. Industry is a recent partner in rare disease research, with industrial partners frequently lacking knowledge in the disease areas and perceiving that the field lacks "trial readiness".
By targeting the needs of these distinct stakeholder groups, the MRC Centre will provide outputs which will promote health and wellbeing in this patient group as well as promoting UK international competitiveness in this research field. Strong relationships are already in place to ensure that impact can be maximized. These include key roles for the Centre PIs in patient organisations and patient organization involvement in research design and oversight; leading roles of the Centre PIs in clinical and academic organizations; identified key areas of liaison with the policy makers involved in rare disease public health decision making and many links to industry (as detailed in Pathway to Impact).
Patients and patient organisations will benefit from the experimental medicine studies and increased trial activity, which is aimed at defining better therapeutic strategies. This will lead to the development of better strategies for diagnosis and treatment of these currently incurable disorders with ultimate impact on health, quality of life and societal benefit via greater participation of this patient group in their communities. Underpinning the experimental medicine activity of the Centre will be the development of stratified cohorts and natural history studies (as highlighted in the new MRC Stratified Medicine call), enabling personalized medicine and a much larger group of patients to contribute to experimental clinical studies and access standardized procedures for care and assessment.
The extension of these studies to new collaborating clinical colleagues across the country by MRC Centre-designed studies continuing to achieve NIHR portfolio adoption will provide tools/resources to greater numbers of clinicians involved in delivery of NMD care while the expertise generated by the MRC Centre will be available for the current planning process for specialized commissioning and rare disease public health policy development. On the academic side, the availability of the resources of the MRC Centre, including the biobanks, stratified cohorts and experimental medicine know how will increase the UK competitiveness for the development of research in this area.
Policy makers will have access to clearer and more harmonized guidance on the management of these patient groups which can be applied to healthcare planning both in the UK in the context of specialized commissioning and in the EU through its rare disease strategy.
Stratified cohorts, research know-how and a strategic programme of preclinical research provide a conducive environment for increased industry engagement with the presence of trial expertise, ready access to rare patients and experimental resources. In addition to interaction with industry for the initiation of industry sponsored studies, the research programmes undertaken in the Centre will identify targets for new areas of industrial exploitation.
Organisations
- University College London (Lead Research Organisation, Project Partner)
- Muscular Dystrophy UK (Collaboration)
- ETH Zurich (Collaboration)
- Jackson Laboratory (Collaboration)
- Senexis Ltd Cambridge (Collaboration, Project Partner)
- University of Otago (Collaboration)
- Shire Pharmaceuticals (Collaboration)
- Royal Veterinary College (RVC) (Collaboration)
- Ludwig Maximilian University of Munich (LMU Munich) (Collaboration)
- Medical Research Council (MRC) (Collaboration)
- Aarhus University (Collaboration)
- HARVARD UNIVERSITY (Collaboration)
- University of Copenhagen (Collaboration)
- San Raffaele Hospital (Collaboration)
- National Institute of Health and Medical Research (INSERM) (Collaboration)
- AVI Biopharma, Inc (Collaboration)
- Newcastle University (Collaboration)
- Erasmus MC (Collaboration)
- MRC Harwell Institute (Collaboration)
- Cancer Research UK (Collaboration)
- UNIVERSITY OF OXFORD (Collaboration)
- Great Ormond Street Hospital (GOSH) (Collaboration)
- SALFORD ROYAL NHS FOUNDATION TRUST (Collaboration)
- KING'S COLLEGE LONDON (Collaboration)
- Aix-Marseille University (Collaboration)
- Faculty of Biotechnology (Collaboration)
- BACTEVO LIMITED (Collaboration)
- Pfizer Ltd (Collaboration)
- GlaxoSmithKline (GSK) (Collaboration)
- University of Barcelona (Collaboration)
- Pierre and Marie Curie University - Paris 6 (Collaboration)
- University of Manchester (Collaboration, Project Partner)
- University College London (Collaboration)
- UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST (Collaboration)
- UNIVERSITY OF NOTTINGHAM (Collaboration)
- Freie Universität Berlin (Collaboration)
- University of Rochester (Collaboration)
- University of Sussex (Collaboration)
- NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST (Collaboration)
- Edison Pharmaceuticals (Collaboration)
- Great Ormond Street Hospital (Project Partner)
- Barts Health NHS Trust (Project Partner)
- Newcastle upon Tyne Hospitals NHS Foundation Trust (Project Partner)
- Robert Jones & Agnes Hunt Orth NHS FT (Project Partner)
- National Hospital for Neurology and Neurosurgery (Project Partner)
- Guy's and St Thomas' NHS Foundation Trust (Project Partner)
- MDC (Project Partner)
- Royal Veterinary College (Project Partner)
- University of Oxford (Project Partner)
- Royal Holloway University of London (Project Partner)
- University of Cambridge (Project Partner)
- King's College London (Project Partner)
Publications
Wood JS
(2013)
Longitudinal testing of visual perception in dementia with Lewy bodies and Alzheimer's disease.
in International journal of geriatric psychiatry
Jalil A
(2013)
Bilateral paediatric optic neuropathy precipitated by vitamin B12 deficiency and a novel mitochondrial DNA mutation.
in International ophthalmology
O'Donovan J
(2013)
Does posterior cortical atrophy on MRI discriminate between Alzheimer's disease, dementia with Lewy bodies, and normal aging?
in International psychogeriatrics
Keogh MJ
(2013)
Neuroferritinopathy.
in International review of neurobiology
Pavlov I
(2014)
From treatment to cure: stopping seizures, preventing seizures, and reducing brain propensity to seize.
in International review of neurobiology
Jurkute N
(2021)
Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.
in Investigative ophthalmology & visual science
Birbeck G
(2014)
Global Opportunities and Challenges for Clinical Neuroscience
in JAMA
Nalls MA
(2013)
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.
in JAMA neurology
Vissing J
(2013)
Diagnosis of Pompe disease: muscle biopsy vs blood-based assays.
in JAMA neurology
Martikainen MH
(2016)
Spectrum of Movement Disorders in Mitochondrial Disorders-Reply.
in JAMA neurology
Sommerville EW
(2017)
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
in JAMA neurology
Pitceathly RD
(2013)
COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.
in JAMA neurology
Suetterlin KJ
(2015)
Long-term Safety and Efficacy of Mexiletine for Patients With Skeletal Muscle Channelopathies.
in JAMA neurology
Anthony K
(2014)
Biochemical Characterization of Patients With In-Frame or Out-of-Frame DMD Deletions Pertinent to Exon 44 or 45 Skipping
in JAMA Neurology
Bettencourt C
(2014)
Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia.
in JAMA neurology
Marina AD
(2013)
NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome.
in JIMD reports
Picard M
(2013)
Acute exercise remodels mitochondrial membrane interactions in mouse skeletal muscle.
in Journal of applied physiology (Bethesda, Md. : 1985)
Picard M
(2013)
Mitochondrial morphology, topology, and membrane interactions in skeletal muscle: a quantitative three-dimensional electron microscopy study.
in Journal of applied physiology (Bethesda, Md. : 1985)
De Luca E
(2014)
Characterisation and evaluation of paramagnetic fluorine labelled glycol chitosan conjugates for (19)F and (1)H magnetic resonance imaging.
in Journal of biological inorganic chemistry : JBIC : a publication of the Society of Biological Inorganic Chemistry
Greally E
(2013)
Heterogeneous abnormalities of in-vivo left ventricular calcium influx and function in mouse models of muscular dystrophy cardiomyopathy.
in Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance
Blain A
(2015)
Absence of Cardiac Benefit with Early Combination ACE Inhibitor and Beta Blocker Treatment in mdx Mice.
in Journal of cardiovascular translational research
Chisholm KI
(2016)
Hypothermia protects brain mitochondrial function from hypoxemia in a murine model of sepsis.
in Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism
| Guideline Title | Guidelines for clinical trials in Duchenne Muscular Dystrophy |
| Description | EMA meetings |
| Geographic Reach | Europe |
| Policy Influence Type | Citation in clinical guidelines |
| Description | Human Fertilisation and Embryology Authority Draft Consultation |
| Geographic Reach | National |
| Policy Influence Type | Contribution to a national consultation/review |
| Impact | "Following a public consultation by the HFEA, the UK Government have backed the pioneering IVF technique where faulty mitochondria are removed from an egg and replaced with mitochondria from a healthy donor to create the so-called '3-parent baby'. http://www.newscientist.com/article/dn24230-warning-sounded-over-threeparent-ivf-safety.html This has resulted in a huge amount of media coverage: http://www.bbc.co.uk/news/health-23079276 Scientists comment on mitochondrial replacement and evolution, as published in Science* Thursday 19th September 2013 Round-up comments Professor Doug Turnbull, Professor of Neurology and Director of the Wellcome Trust Centre for Mitochondrial Research, Newcastle University, said: "Like every new medical technique, mitochondrial replacement will carry some risks when first used to treat patients. We welcome discussion of these and agree that families affected by mitochondrial disease should be fully appraised of the best science, so they can judge uncertain risk from the procedure against 2 the known high risk of having a child with a devastating disease. They will also consider the likely benefits of mitochondrial replacement, which we are pleased that the authors of this commentary acknowledge. "We do not agree that the concerns raised by the authors have been overlooked, or that they present a compelling argument against clinical use. The experiments they cite have methodological weaknesses that limit their relevance to humans, or have been superseded by more exhaustive research. "The suggestion that proof-of-principle experiments in macaques involved closely-related animals is especially misleading. Data in the original paper report that the macaques involved in this work were unrelated, with substantial differences between the mitochondrial genomes of these animals. "The authors nonetheless make sensible suggestions about managing risk by matching donated mitochondria to the mother's as closely as possible. This will often be simple to achieve and is already in our plans. "It is critical that all risks, however small, are independently assessed and weighed against probable benefits before mitochondrial replacement is approved for clinical use. The proper forum for this assessment will be the expert HFEA licence committees that decide whether the techniques are safe enough to be offered to patients, should Parliament agree that they are ethically acceptable." Professor Robin Lovell-Badge, Head of Developmental Genetics, MRC National Institute for Medical Research, said: "The authors of the commentary highlight some interesting (although not novel) concepts to do with evolution of mitochondrial DNA sequences and the obvious conflict present due to mitochondria being inherited only from females, which means effectively that it is not in their "interest" to promote male survival or fertility. However, this is almost certainly of little relevance within a freely interbreeding species such as humans, and it is of even less relevance when talking about using "mitochondria replacement" techniques to allow a few individual women to have healthy rather than desperately ill children." * 'Mitochondrial replacement, evolution, and the clinic' by Klaus Reinhardt et al. will be published in Science at 19:00 UK time on Thursday 19 September 2013, which is also when the embargo will lift. All our previous output on this subject can be seen at this weblink: http://www.sciencemediacentre.org/tag/mitochondrial-dna/ http://www.bbc.co.uk/news/health-24158049 New Scientist (quotes Doug Turnbull) http://www.newscientist.com/article/dn24230-warning-sounded-over-threeparent-ivfsafety. html#.UjwUrz82nm4 Times (quotes Robin Lovell-Badge and Doug Turnbull) http://www.thetimes.co.uk/tto/health/news/article3874038.ece 3 Science AAAS (quotes Robin Lovell-Badge) http://news.sciencemag.org/biology/2013/09/new-controversy-over-experimental-ivf-method Clips BBC News (quotes Robin Lovell-Badge and Doug Turnbull) http://www.bbc.co.uk/news/health-24158049 19 September 2013 Last updated at 20:10 Warning of three-person IVF 'risks' By James Gallagher Health and science reporter, BBC News http://theconversation.com/viewpoints-the-promise-and-perils-of-three-parent-ivf-18402." |
| Description | 2CiC - Understanding the biology of ageing skeletal muscle in the oldest old |
| Amount | £21,373 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | 01/2016 |
| End | 07/2016 |
| Description | A Lily Precision Diagnostic Service - Accelerating the Introduction of Advanced Diagnostics for Mitochondrial Patients in the NHS |
| Amount | £644,882 (GBP) |
| Organisation | The Lily Foundation |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 03/2023 |
| End | 02/2027 |
| Description | A model of postnatal tissue regeneration from transplanted stem cells (co-investigator ) equipment grant |
| Amount | £164,508 (GBP) |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | ARUK |
| Amount | £160,000 (GBP) |
| Organisation | Versus Arthritis |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 04/2016 |
| End | 09/2018 |
| Description | Adrenergic signalling and congenital myasthenic syndromes - ABN Fellowship |
| Amount | £164,119 (GBP) |
| Organisation | Guarantors of Brain |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 08/2015 |
| End | 07/2018 |
| Description | Advances in oligonucleotide-mediated exon skipping for DMD and related disorders - WP3 |
| Amount | £84,644 (GBP) |
| Organisation | French Muscular Dystrophy Association (AFM) |
| Sector | Charity/Non Profit |
| Country | France |
| Start | 04/2014 |
| End | 06/2016 |
| Description | Applications of MR imaging and spectroscopy techniques in neuromuscular disease: collaboration on outcome measures and pattern recognition for diagnostics and therapy development |
| Amount | £153,059 (GBP) |
| Organisation | Dystonia Europe |
| Sector | Charity/Non Profit |
| Country | European Union (EU) |
| Start | 01/2014 |
| End | 04/2016 |
| Description | BIO-NMD consortium (Identifying and validating pre-clinical biomarkers for diagnostics and therapeutics of neuromuscular Disorders (PI)) |
| Amount | £576,521 (GBP) |
| Funding ID | 241665 |
| Organisation | European Commission |
| Department | Seventh Framework Programme (FP7) |
| Sector | Public |
| Country | European Union (EU) |
| Start | 01/2010 |
| End | 01/2013 |
| Description | BMedSci - Intercalated degree Bursary for Amy McWhirter |
| Amount | £5,000 (GBP) |
| Organisation | Association of British Neurologists (ABN) |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 09/2017 |
| End | 08/2018 |
| Description | BRC |
| Amount | £139,000 (GBP) |
| Organisation | National Institute for Health Research |
| Department | NIHR Biomedical Research Centre |
| Sector | Public |
| Country | United Kingdom |
| Start | 04/2013 |
| End | 03/2016 |
| Description | BRC single cells using imaging mass spectrometry |
| Amount | £135,711 (GBP) |
| Organisation | Royal Brompton & Harefield NHS Foundation Trust |
| Department | NIHR Biomedical Research Unit |
| Sector | Public |
| Country | United Kingdom |
| Start | 03/2018 |
| End | 02/2021 |
| Description | Bezafibrate to treat mitochondrial myopathy. Internal award. |
| Amount | £69,000 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Department | MRC Confidence in Concept Scheme |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 03/2015 |
| End | 03/2017 |
| Description | Brain Research Trust/Sobell Foundation Award |
| Amount | £175,000 (GBP) |
| Organisation | Brain Research UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | Brain imaging and cognition in boys with Duchenne muscular dystrophy |
| Amount | £55,337 (GBP) |
| Funding ID | RA3/3079 |
| Organisation | Muscular Dystrophy UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 10/2015 |
| End | 09/2018 |
| Description | Bridging Funding |
| Amount | £342,971 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | 01/2014 |
| End | 12/2014 |
| Description | Building the Knowledge Base for Therapy Development in Duchenne Muscular Dystrophy |
| Amount | £250,000 (GBP) |
| Organisation | Action Duchenne |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 07/2015 |
| End | 06/2020 |
| Description | Building the Knowledge Base for Therapy Development in Duchenne Muscular Dystrophy |
| Amount | £250,000 (GBP) |
| Organisation | Action Duchenne |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 07/2015 |
| End | 06/2020 |
| Description | CASE Studentship |
| Amount | £101,520 (GBP) |
| Organisation | GlaxoSmithKline (GSK) |
| Sector | Private |
| Country | Global |
| Start | 09/2013 |
| End | 08/2017 |
| Description | CMTUK MRI funding |
| Amount | £30,000 (GBP) |
| Organisation | Charcot-Marie-Tooth Disease (CMT) |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 09/2013 |
| End | 08/2016 |
| Description | CSO Fellowship |
| Amount | £208,314 (GBP) |
| Organisation | National Institute for Health Research |
| Sector | Public |
| Country | United Kingdom |
| Start | |
| Description | Capital Equipment Fund |
| Amount | £300,000 (GBP) |
| Organisation | University College London |
| Department | School of Life and Medical Sciences |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | |
| Description | Cardiomyocyte regeneration in non-ischaemic cardiomyopathy |
| Amount | £161,319 (GBP) |
| Funding ID | PG/13/69/30454 |
| Organisation | British Heart Foundation (BHF) |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 02/2014 |
| End | 02/2016 |
| Description | Centre Grant |
| Amount | £2,907,201 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | |
| Description | Centre Grant Extension - Centre for Brain Ageing and Vitality |
| Amount | £342,971 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | |
| Description | Channelopathy Clinical Research Fellow |
| Amount | £205,000 (GBP) |
| Organisation | University College Hospital |
| Sector | Hospitals |
| Country | United Kingdom |
| Start | 08/2019 |
| End | 07/2022 |
| Description | Charities MYO-SEQ |
| Amount | £19,444 (GBP) |
| Organisation | LGMD2i Research Fund |
| Sector | Charity/Non Profit |
| Country | United States |
| Start | 01/2015 |
| End | 12/2015 |
| Description | CiC - Strengthening the neuromuscular junction as a new concept for the treatment of congenital myasthenic syndromes and motor neuropathies with synaptic dysfunction |
| Amount | £37,852 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | 03/2016 |
| End | 08/2016 |
| Description | CiC : Developing an assay to measure SMN complex activity for the identification of SMA therapeutics. |
| Amount | £19,565 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | 08/2015 |
| End | 03/2016 |
| Description | Clinical Research Associates x2 |
| Amount | £60,000 (GBP) |
| Organisation | Muscular Dystrophy UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 06/2016 |
| End | 04/2017 |
| Description | Clinical Research Capabilities Call |
| Amount | £1,980,000 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | |
| Description | Clinical Research Career Development Fellowship: Skeletal muscle channelopathies - severe infantile phneotypes and sudden infant death syndrome |
| Amount | £283,711 (GBP) |
| Funding ID | 209583 |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 05/2018 |
| End | 04/2020 |
| Description | Clinical Research Fellowship |
| Amount | £124,000 (GBP) |
| Organisation | The Lily Foundation |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 08/2015 |
| End | 07/2017 |
| Description | Clinical Research Fellowship in mitochondrial diseases |
| Amount | £230,314 (GBP) |
| Organisation | Clore Duffield Foundation |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 06/2018 |
| End | 08/2023 |
| Description | Clinical Research Training Fellowship |
| Amount | £144,849 (GBP) |
| Organisation | Medical Research Council of South Africa (MRC) |
| Sector | Public |
| Country | South Africa |
| Start | 09/2014 |
| End | 08/2017 |
| Description | Clinical Research Training Fellowship |
| Amount | £225,000 (GBP) |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | Clinical Trial |
| Amount | $214,235 (USD) |
| Organisation | Food and Drug Administration (FDA) |
| Sector | Public |
| Country | United States |
| Start | 01/2018 |
| End | 12/2021 |
| Description | Clinical research capabilities call. The Newcastle University Single Cell Functional Genomics Unit |
| Amount | £1,980,000 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | 04/2015 |
| End | 03/2017 |
| Description | Cochrane Neuromuscular Disease Group Quinquennial Renewal |
| Amount | £700,000 (GBP) |
| Organisation | The Cochrane Collaboration |
| Sector | Charity/Non Profit |
| Country | Global |
| Start | |
| Description | Controlling Abnormal Network Dynamics with Optogenetics (CANDO) - Full Application |
| Amount | £7,337,845 (GBP) |
| Funding ID | 102037/Z/13/Z |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 08/2014 |
| End | 07/2021 |
| Description | DMD Liaison Post |
| Amount | £18,518 (GBP) |
| Organisation | Duchenne Parent Project Holland |
| Sector | Charity/Non Profit |
| Country | Netherlands |
| Start | 10/2013 |
| End | 09/2016 |
| Description | DMD Liaison Post |
| Amount | £22,500 (GBP) |
| Organisation | Parent Project Muscular Dystrophy |
| Sector | Charity/Non Profit |
| Country | United States |
| Start | 10/2013 |
| End | 03/2014 |
| Description | DMD Programme Coordinator |
| Amount | £94,600 (GBP) |
| Organisation | Duchenne UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 07/2015 |
| End | 06/2017 |
| Description | DMD liaison post at TREAT-NMD office |
| Amount | £22,500 (GBP) |
| Organisation | Parent Project Muscular Dystrophy |
| Sector | Charity/Non Profit |
| Country | United States |
| Start | 04/2014 |
| End | 09/2014 |
| Description | Deep molecular phenotyping of myotonic dystrophy (DM1) hiPSC-cardiomyocytes to facilitate risk stratification and drug evaluation |
| Amount | £72,413 (GBP) |
| Organisation | British Heart Foundation (BHF) |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 05/2015 |
| End | 04/2018 |
| Description | Demonstrating state-of-the-art neurological MRI for patients with DBS equipment in situ consistent with new product-label MRI safety conditions |
| Amount | £40,234 (GBP) |
| Organisation | Medtronic |
| Sector | Private |
| Country | United States |
| Start | 07/2015 |
| End | 12/2015 |
| Description | Development of new Gene Therapy approaches for Spinal Muscular Atrophy. |
| Amount | £76,000 (GBP) |
| Organisation | Great Ormond Street Hospital Children's Charity (GOSHCC) |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 09/2015 |
| End | 09/2018 |
| Description | Disease progression in mitochondrial disease |
| Amount | £200,000 (GBP) |
| Organisation | National Institute for Health Research |
| Department | NIHR Biomedical Research Centre |
| Sector | Public |
| Country | United Kingdom |
| Start | 04/2015 |
| End | 03/2017 |
| Description | Dr Michela Guglieri RCF Support |
| Amount | £153,755 (GBP) |
| Organisation | NHS England |
| Sector | Public |
| Country | United Kingdom |
| Start | 10/2017 |
| End | 01/2019 |
| Description | EU - Horizon 2020 |
| Amount | £1,832,756 (GBP) |
| Organisation | European Commission |
| Sector | Public |
| Country | European Union (EU) |
| Start | 10/2015 |
| End | 09/2019 |
| Description | EU Health Innovation |
| Amount | € 1,440,000 (EUR) |
| Organisation | European Commission |
| Sector | Public |
| Country | European Union (EU) |
| Start | |
| Description | EU-FP6 TREAT-NMD Network of Excellance in Neuromuscular diseases (co-investigator, 10m euros across 27 participants) |
| Amount | £303,704 (GBP) |
| Funding ID | 36825 |
| Organisation | Sixth Framework Programme (FP6) |
| Sector | Public |
| Country | European Union (EU) |
| Start | 11/2007 |
| End | 11/2011 |
| Description | Efficacy mechanism evaluation |
| Amount | £641,000 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | |
| Description | Exosomes: a novel therapeutic approach for the treatment of dystrophinopathies |
| Amount | £71,441 (GBP) |
| Organisation | Action Duchenne |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 02/2014 |
| End | 01/2015 |
| Description | FP7 |
| Amount | € 5,960,000 (EUR) |
| Organisation | European Commission |
| Sector | Public |
| Country | European Union (EU) |
| Start | 10/2013 |
| End | 12/2016 |
| Description | FP7 Health 2013 Innovation 1 |
| Amount | £498,992 (GBP) |
| Organisation | European Commission |
| Sector | Public |
| Country | European Union (EU) |
| Start | 12/2013 |
| End | 12/2016 |
| Description | Fast Track Grant |
| Amount | £40,000 (GBP) |
| Organisation | National Institute for Health Research |
| Department | UCLH/UCL Biomedical Research Centre |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | |
| Description | First head to head trial in non-dystrophic myotonias |
| Amount | £50,877 (GBP) |
| Organisation | J P Moulton Charitable Foundation |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 03/2020 |
| End | 02/2021 |
| Description | Genzyme MYO-SEQ (Straub) |
| Amount | £107,929 (GBP) |
| Organisation | Sanofi |
| Department | Genzyme Europe B.V. |
| Sector | Private |
| Country | Croatia |
| Start | 12/2014 |
| End | 06/2016 |
| Description | Horizon2020 eNHANCE motor function in physically disabled people. |
| Amount | £345,000 (GBP) |
| Funding ID | 644000 |
| Organisation | European Commission |
| Department | Horizon 2020 |
| Sector | Public |
| Country | European Union (EU) |
| Start | 02/2015 |
| End | 01/2019 |
| Description | IBM Arimoclomol - MRI Sub-study |
| Amount | £453,251 (GBP) |
| Organisation | Orphazyme APs |
| Sector | Private |
| Country | Denmark |
| Start | |
| Description | INC research patient registry enquiry |
| Amount | £4,472 (GBP) |
| Organisation | INC Research |
| Sector | Private |
| Country | United States |
| Start | 08/2014 |
| End | 12/2014 |
| Description | Identification of new genes responsible for congenital muscular dystrophies and congenital myopathies using diverse invivo and in vitro approaches (PI) |
| Amount | £126,000 (GBP) |
| Funding ID | RA4/924 |
| Organisation | Muscular Dystrophy UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 09/2011 |
| End | 08/2015 |
| Description | Identifying HIBM patients - Ultragenyx |
| Amount | £155,213 (GBP) |
| Organisation | Ultragenyx Pharmaceutical Inc |
| Sector | Private |
| Country | United States |
| Start | 09/2015 |
| End | 02/2017 |
| Description | Investigating the role of cardiolipin metabolism in mitochondrial DNA replication and mitochondrial division |
| Amount | £1,083,602 (GBP) |
| Funding ID | MR/S002065/1 |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | 03/2019 |
| End | 02/2024 |
| Description | Lily-Stoneygate Research Awards Programme |
| Amount | £83,686 (GBP) |
| Organisation | The Lily Foundation |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 08/2017 |
| End | 10/2018 |
| Description | MDC Clinical Trials Coordinator |
| Amount | £75,335 (GBP) |
| Organisation | Muscular Dystrophy UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 04/2013 |
| End | 03/2015 |
| Description | MORNINGSIDE Ventures |
| Amount | £390,087 (GBP) |
| Organisation | Morningside Venture Capital |
| Sector | Private |
| Country | China |
| Start | 10/2016 |
| End | 09/2018 |
| Description | MRC Clinical Training Fellowship |
| Amount | £212,000 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | 09/2014 |
| End | 08/2017 |
| Description | MRC Confidence in Concept Fund (co-investigator with Professor Hanns Lochmüller) |
| Amount | £37,852 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | 04/2016 |
| End | 09/2016 |
| Description | MRC Strategic Award to establish an international centre for genomic medicine in neuromuscular diseases |
| Amount | £3,139,610 (GBP) |
| Funding ID | MR/S005021/1 |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | 06/2019 |
| End | 05/2024 |
| Description | MRC research grant |
| Amount | £464,000 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | 11/2014 |
| End | 09/2017 |
| Description | MYOPROSP Consortium |
| Amount | £66,301 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | |
| Description | Marie Curie Training Network |
| Amount | £425,000 (GBP) |
| Organisation | European Commission |
| Department | Seventh Framework Programme (FP7) |
| Sector | Public |
| Country | European Union (EU) |
| Start | |
| Description | Matched Funding |
| Amount | £493,106 (GBP) |
| Organisation | National Institute for Health Research |
| Department | UCLH/UCL Biomedical Research Centre |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | 02/2013 |
| End | 01/2018 |
| Description | Matched Funding |
| Amount | £282,714 (GBP) |
| Organisation | Great Ormond Street Hospital (GOSH) |
| Department | NIHR Great Ormond Street Biomedical Research Centre |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | 02/2013 |
| End | 01/2018 |
| Description | Matched funding for MRC Centre for Neuromuscular Diseases |
| Amount | £282,714 (GBP) |
| Organisation | Great Ormond Street Hospital (GOSH) |
| Department | NIHR Great Ormond Street Biomedical Research Centre |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | |
| Description | Matched funding for MRC Centre for Neuromuscular Diseases |
| Amount | £493,106 (GBP) |
| Organisation | National Institute for Health Research |
| Department | UCLH/UCL Biomedical Research Centre |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | |
| Description | Mission Therapeutics |
| Amount | £25,831 (GBP) |
| Organisation | MISSION Therapeutics |
| Sector | Private |
| Country | United Kingdom |
| Start | 11/2016 |
| End | 08/2017 |
| Description | MitoCluster Consortium : An Integrated Phenotyping and Mouse Model Generation Platform for Mitochondrial Disease and Dysfunction |
| Amount | £2,933,088 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | 03/2023 |
| End | 02/2029 |
| Description | Myotubular and Centronuclear Myopathy Patient Registry |
| Amount | £61,744 (GBP) |
| Organisation | Myotubular Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 12/2015 |
| End | 11/2017 |
| Description | NHE1 inhibitors to treat Duchenne muscular dystrophy |
| Amount | £129,298 (GBP) |
| Funding ID | 2228 |
| Organisation | Action Medical Research |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 03/2014 |
| End | 08/2016 |
| Description | NHS Service Support |
| Amount | £98,428 (GBP) |
| Organisation | National Institute for Health Research |
| Department | NIHR Newcastle Biomedical Research Centre |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | |
| Description | NIH Rare Diseases Consortium Grant(USA) |
| Amount | $5,000,000 (USD) |
| Organisation | National Institutes of Health (NIH) |
| Department | National Cancer Institute (NCI) |
| Sector | Public |
| Country | United States |
| Start | 08/2015 |
| End | 07/2019 |
| Description | NIHR Great Ormond Street Hospital BRC award 18NM02 - Clinical Training Fellow |
| Amount | £147,471 (GBP) |
| Organisation | Great Ormond Street Hospital (GOSH) |
| Sector | Hospitals |
| Country | United Kingdom |
| Start | 04/2020 |
| End | 03/2023 |
| Description | NIHR Rare Disease Translational Research Collaboration Postdoctoral Clinical Fellowship - Channelopathies |
| Amount | £363,060 (GBP) |
| Organisation | National Institute for Health Research |
| Department | NIHR Biomedical Research Centre |
| Sector | Public |
| Country | United Kingdom |
| Start | 04/2014 |
| End | 03/2017 |
| Description | NIHR Rare Disease Translational Research Collaboration Postdoctoral Clinical Fellowship - IBM |
| Amount | £401,333 (GBP) |
| Organisation | National Institute for Health Research |
| Department | NIHR Biomedical Research Centre |
| Sector | Public |
| Country | United Kingdom |
| Start | 04/2014 |
| End | 03/2017 |
| Description | Naarden Five Years Later. A global assessment of myotonic dystrophy registries, databases and cohorts. |
| Amount | £20,000 (GBP) |
| Organisation | Marigold Foundation |
| Sector | Charity/Non Profit |
| Country | Malta |
| Start | 02/2015 |
| End | 01/2016 |
| Description | National Institute of Cancer collaboration - UK Myotonic Dystrophy Patient Registry |
| Amount | £13,889 (GBP) |
| Organisation | Government of Colombia |
| Department | National Cancer Institute |
| Sector | Academic/University |
| Country | Colombia |
| Start | 09/2014 |
| End | 08/2015 |
| Description | Neuromics |
| Amount | £193,000 (GBP) |
| Organisation | European Commission |
| Department | Seventh Framework Programme (FP7) |
| Sector | Public |
| Country | European Union (EU) |
| Start | |
| Description | Neuromics FP7f |
| Amount | £193,000 (GBP) |
| Organisation | European Commission |
| Department | Seventh Framework Programme (FP7) |
| Sector | Public |
| Country | European Union (EU) |
| Start | 09/2013 |
| End | 08/2016 |
| Description | Neuromuscular Clinical Trial Coordinator |
| Amount | £56,294 (GBP) |
| Organisation | National Brain Appeal |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 06/2019 |
| End | 11/2020 |
| Description | Neuromuscular Disease Theme |
| Amount | £398,514 (GBP) |
| Organisation | National Institute for Health Research |
| Department | UCLH/UCL Biomedical Research Centre |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | 06/2017 |
| End | 05/2021 |
| Description | Neuromuscular Disease Theme 3 |
| Amount | £257,408 (GBP) |
| Organisation | University College Hospital |
| Sector | Hospitals |
| Country | United Kingdom |
| Start | 04/2020 |
| End | 05/2022 |
| Description | Neuromuscular Research Manager |
| Amount | £200,312 (GBP) |
| Organisation | National Brain Appeal |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 06/2019 |
| End | 05/2024 |
| Description | Next generation MRI brain imaging platform for dementia research: from microstructure to function |
| Amount | £1,400,000 (GBP) |
| Funding ID | MR/M009106/1 |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | 04/2015 |
| End | 08/2016 |
| Description | Novel biomarkers for mitochondrial disease |
| Amount | £197,219 (GBP) |
| Organisation | GlaxoSmithKline (GSK) |
| Sector | Private |
| Country | Global |
| Start | 04/2015 |
| End | 03/2018 |
| Description | Patient Registry |
| Amount | £10,826 (GBP) |
| Organisation | PTC Therapeutics |
| Sector | Private |
| Country | United States |
| Start | |
| Description | People Itn (Marie-Curie Action) |
| Amount | € 577,798 (EUR) |
| Organisation | European Commission |
| Department | Seventh Framework Programme (FP7) |
| Sector | Public |
| Country | European Union (EU) |
| Start | |
| Description | Peptide conjugated oligonucleotides for splice switching therapy of Spinal Muscular Atrophy |
| Amount | £24,547 (GBP) |
| Funding ID | MR/L013142/1 |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | 09/2014 |
| End | 08/2017 |
| Description | Periodic paralysis: from molecules to mice |
| Amount | £464,146 (GBP) |
| Funding ID | MR/M006948/1 |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | 04/2014 |
| End | 03/2017 |
| Description | Pfizer patient registry enquiry |
| Amount | £13,995 (GBP) |
| Organisation | Pfizer Global R & D |
| Sector | Private |
| Country | United States |
| Start | 11/2014 |
| End | 06/2015 |
| Description | PhD Studentship |
| Amount | £50,000 (GBP) |
| Organisation | Ryan Stanford Appeal |
| Sector | Charity/Non Profit |
| Country | Global |
| Start | 09/2014 |
| End | 08/2017 |
| Description | PhenoDM1Myotonic Dystrophy type 1 (DM1) deep phenotyping to improve delivery of personalised medicine |
| Amount | £192,000 (GBP) |
| Organisation | National Institute for Health Research |
| Sector | Public |
| Country | United Kingdom |
| Start | 05/2015 |
| End | 03/2017 |
| Description | Post-Doctoral Fellowship |
| Amount | £143,000 (GBP) |
| Organisation | GlaxoSmithKline (GSK) |
| Sector | Private |
| Country | Global |
| Start | |
| Description | Post-Doctoral Fellowship |
| Amount | £401,333 (GBP) |
| Organisation | National Institute for Health Research |
| Sector | Public |
| Country | United Kingdom |
| Start | 09/2014 |
| End | 08/2017 |
| Description | Post-Doctoral Fellowship |
| Amount | £145,000 (GBP) |
| Organisation | Engineering and Physical Sciences Research Council (EPSRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | |
| Description | Post-Doctoral Fellowship |
| Amount | £363,060 (GBP) |
| Organisation | National Institute for Health Research |
| Sector | Public |
| Country | United Kingdom |
| Start | 09/2014 |
| End | 08/2017 |
| Description | Project 3 - Accelerating the agenda for academic networking in post marketing surveillance for RD drug development |
| Amount | £88,888 (GBP) |
| Organisation | Children's National Medical Centre |
| Sector | Hospitals |
| Country | United States |
| Start | 01/2014 |
| End | 12/2014 |
| Description | Project 3 - Accelerating the agenda for academic networking in post marketing surveillance for RD drug development |
| Amount | £88,888 (GBP) |
| Organisation | Children's National Medical Centre |
| Sector | Hospitals |
| Country | United States |
| Start | 01/2014 |
| End | 09/2017 |
| Description | Project Grant |
| Amount | £8,066 (GBP) |
| Organisation | British Heart Foundation (BHF) |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | Project Grant |
| Amount | £111,225 (GBP) |
| Organisation | Muscular Dystrophy UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | Project Grant |
| Amount | £35,714 (GBP) |
| Organisation | French Muscular Dystrophy Association (AFM) |
| Sector | Charity/Non Profit |
| Country | France |
| Start | |
| Description | Project Grant |
| Amount | £96,360 (GBP) |
| Organisation | National Institute for Health Research |
| Department | UCLH/UCL Biomedical Research Centre |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | |
| Description | Project Grant |
| Amount | £158,860 (GBP) |
| Organisation | National Institute for Health Research |
| Sector | Public |
| Country | United Kingdom |
| Start | |
| Description | Project Grant |
| Amount | £44,000 (GBP) |
| Organisation | The Lily Foundation |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | Project Grant |
| Amount | $100,000 (USD) |
| Organisation | Novartis Institutes for BioMedical Research (NIBR) |
| Sector | Private |
| Country | United States |
| Start | |
| Description | Project Grant |
| Amount | £7,000 (GBP) |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | Project Grant |
| Amount | £157,489 (GBP) |
| Organisation | Newcastle upon Tyne Hospitals NHS Foundation Trust |
| Department | Newcastle Healthcare Charity |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | Project Grant |
| Amount | £25,002 (GBP) |
| Organisation | National Institute for Health Research |
| Department | NIHR Newcastle Biomedical Research Centre |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | |
| Description | Project Grant |
| Amount | £112,665 (GBP) |
| Organisation | e-Therapeutics |
| Sector | Private |
| Country | United Kingdom |
| Start | |
| Description | Project Grant |
| Amount | £30,000 (GBP) |
| Organisation | Charcot-Marie-Tooth Disease (CMT) |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | Project Grant |
| Amount | £466,205 (GBP) |
| Funding ID | MR/K018523/1 |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | |
| Description | Project Grant |
| Amount | £891,000 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | |
| Description | Project Grant |
| Amount | £174,944 (GBP) |
| Organisation | Muscular Dystrophy UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | Project Grant |
| Amount | £264,000 (GBP) |
| Organisation | SMA Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | Project Grant |
| Amount | £200,243 (GBP) |
| Organisation | Action Medical Research |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | Project Grant |
| Amount | £60,000 (GBP) |
| Organisation | Muscular Dystrophy UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 06/2013 |
| End | 06/2015 |
| Description | Project Grant |
| Amount | £70,000 (GBP) |
| Organisation | Eli Lilly & Company Ltd |
| Sector | Private |
| Country | United Kingdom |
| Start | |
| Description | Project Grant |
| Amount | £100,000 (GBP) |
| Organisation | Brain Research UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | Project Grant |
| Amount | £71,441 (GBP) |
| Organisation | Action Duchenne |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | Project Grant |
| Amount | £730,067 (GBP) |
| Organisation | European Commission |
| Sector | Public |
| Country | European Union (EU) |
| Start | |
| Description | Project Grant |
| Amount | £29,507 (GBP) |
| Organisation | Great Ormond Street Hospital Children's Charity (GOSHCC) |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 01/2013 |
| End | 12/2013 |
| Description | Project Grant |
| Amount | £1,008,000 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | |
| Description | Project Grant |
| Amount | £59,134 (GBP) |
| Organisation | Muscular Dystrophy UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | Project Grant |
| Amount | € 852,000 (EUR) |
| Organisation | French Muscular Dystrophy Association (AFM) |
| Sector | Charity/Non Profit |
| Country | France |
| Start | |
| Description | Project Grant |
| Amount | £9,019 (GBP) |
| Organisation | European Commission |
| Sector | Public |
| Country | European Union (EU) |
| Start | |
| Description | Project Grant |
| Amount | $25,000 (USD) |
| Organisation | Cure CMD (Congenital Muscular Dystrophies) |
| Sector | Charity/Non Profit |
| Country | United States |
| Start | |
| Description | Project Grant |
| Amount | £4,194,451 (GBP) |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | Project Grant |
| Amount | £99,360 (GBP) |
| Organisation | National Institute for Health Research |
| Department | UCLH/UCL Biomedical Research Centre |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | |
| Description | Project Grant |
| Amount | £72,666 (GBP) |
| Organisation | European Cooperation in Science and Technology (COST) |
| Sector | Public |
| Country | Belgium |
| Start | |
| Description | Project Grant |
| Amount | £994,155 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | |
| Description | Project Grant |
| Amount | £50,836 (GBP) |
| Organisation | Genethon |
| Sector | Charity/Non Profit |
| Country | France |
| Start | |
| Description | Project Grant |
| Amount | £464,146 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | 12/2014 |
| End | 11/2017 |
| Description | Project Grant |
| Amount | £40,000 (GBP) |
| Organisation | National Institute for Health Research |
| Department | UCLH/UCL Biomedical Research Centre |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | |
| Description | Project Grant - Evaluating benefits of community-based aerobic training |
| Amount | £197,000 (GBP) |
| Funding ID | PB-PG-0711-25151 |
| Organisation | National Institute for Health Research |
| Sector | Public |
| Country | United Kingdom |
| Start | |
| Description | Project Grant - exercise training in sedentary subjects |
| Amount | £107,988 (GBP) |
| Organisation | National Institute for Health Research |
| Department | NIHR Newcastle Biomedical Research Centre |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | |
| Description | Project Grant - mitochondrial quality control pathways |
| Amount | £192,243 (GBP) |
| Funding ID | 2158 |
| Organisation | Action Medical Research |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | Project grant |
| Amount | £177,731 (GBP) |
| Organisation | Janus Developments |
| Sector | Private |
| Country | Spain |
| Start | |
| Description | Project grant - Eve's curse: the art of mitochondrial disease |
| Amount | £7,000 (GBP) |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | Project grant - HSN1: exploring the role of 1-dSLs in the pathogenesis of the disease, and defining outcome measures for a clinical trial |
| Amount | £99,360 (GBP) |
| Organisation | National Institute for Health Research |
| Department | UCLH/UCL Biomedical Research Centre |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | |
| Description | Project grant - Monogenetic mitochondrial disorders |
| Amount | £55,556 (GBP) |
| Organisation | Novartis |
| Sector | Private |
| Country | Global |
| Start | |
| Description | Project grant - The importance of mitochondiral dysfunction in the pathogenesis of osteoporosis |
| Amount | £100,000 (GBP) |
| Organisation | Newcastle upon Tyne Hospitals NHS Foundation Trust |
| Department | Newcastle Healthcare Charity |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | Project grant - Treating mitochondrial dysfunction |
| Amount | £25,002 (GBP) |
| Organisation | National Institute for Health Research |
| Department | NIHR Newcastle Biomedical Research Centre |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | |
| Description | Project grant - developing MRI as an outcome measure for CMT |
| Amount | £30,000 (GBP) |
| Organisation | Charcot-Marie-Tooth Disease (CMT) |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | Project grant - high throughput genomics and transcriptions of the human development biology resource |
| Amount | £891,000 (GBP) |
| Funding ID | MC_PC_13047 |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | |
| Description | Project grant - maximising the value of MRC Brain Banks: high-throughput genomic studies to enrich data available to the research community |
| Amount | £1,700,000 (GBP) |
| Funding ID | MC_PC_13044 |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | |
| Description | Project grant: A randomised controlled trial of efficacy of heat shock protein upregulation in IBM |
| Amount | $1,543,444 (USD) |
| Organisation | Food and Drug Administration (FDA) |
| Sector | Public |
| Country | United States |
| Start | |
| Description | Proof of concept trial |
| Amount | $100,000 (USD) |
| Organisation | Higher Education Funding Council for England |
| Sector | Public |
| Country | United Kingdom |
| Start | 05/2016 |
| End | 07/2016 |
| Description | Public Engagement Programme |
| Amount | £286,551 (GBP) |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | Public Engagement Programme |
| Amount | £287,000 (GBP) |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | Purchase of Embletta MPR PSG with ST+ proxy sleep recording device |
| Amount | £11,500 (GBP) |
| Funding ID | MC1/1076 |
| Organisation | Muscular Dystrophy Association |
| Sector | Charity/Non Profit |
| Country | United States |
| Start | 11/2015 |
| End | 11/2016 |
| Description | RARE - Best Practices |
| Amount | £28,571 (GBP) |
| Funding ID | 305690 |
| Organisation | European Commission |
| Sector | Public |
| Country | European Union (EU) |
| Start | 10/2013 |
| End | 12/2016 |
| Description | RCF Award |
| Amount | £49,000 (GBP) |
| Organisation | National Institute for Health Research |
| Sector | Public |
| Country | United Kingdom |
| Start | |
| Description | RCF Award |
| Amount | £200,010 (GBP) |
| Organisation | Newcastle upon Tyne Hospitals NHS Foundation Trust |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | |
| Description | RD-ACTION Joint Action on EU wide rare diseases information databases |
| Amount | £530,404 (GBP) |
| Organisation | European Commission |
| Sector | Public |
| Country | European Union (EU) |
| Start | 06/2015 |
| End | 05/2018 |
| Description | Rare Disease Initiative |
| Amount | £355,000 (GBP) |
| Organisation | National Institute for Health Research |
| Sector | Public |
| Country | United Kingdom |
| Start | |
| Description | Rare Diseases Translational Research Collaboration - DMD |
| Amount | £200,000 (GBP) |
| Organisation | National Institute for Health Research |
| Sector | Public |
| Country | United Kingdom |
| Start | 04/2013 |
| End | 03/2015 |
| Description | Rare Diseases Translational Research Collaboration - IBM |
| Amount | £250,000 (GBP) |
| Organisation | National Institute for Health Research |
| Sector | Public |
| Country | United Kingdom |
| Start | 04/2013 |
| End | 03/2015 |
| Description | Reneo |
| Amount | £282,956 (GBP) |
| Organisation | Reneo Pharmaceuticals, Inc |
| Sector | Private |
| Country | United States |
| Start | 03/2018 |
| End | 10/2018 |
| Description | Repair of duplications in dystrophin using CRSIPR/ Cas9. |
| Amount | £118,400 (GBP) |
| Funding ID | RA2/3076 |
| Organisation | Muscular Dystrophy UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 01/2016 |
| End | 12/2017 |
| Description | Research Grant |
| Amount | £233,400 (GBP) |
| Organisation | European Commission |
| Department | Seventh Framework Programme (FP7) |
| Sector | Public |
| Country | European Union (EU) |
| Start | |
| Description | Research Grant |
| Amount | £194,000 (GBP) |
| Organisation | National Institute for Health Research |
| Sector | Public |
| Country | United Kingdom |
| Start | |
| Description | Research Grant |
| Amount | £146,520 (GBP) |
| Organisation | Muscular Dystrophy UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 09/2017 |
| End | 08/2019 |
| Description | Research Physiotherapist |
| Amount | £17,561 (GBP) |
| Organisation | UK Clinical Research Network (UKCRN) |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 10/2014 |
| End | 09/2015 |
| Description | Research Studentship |
| Amount | £111,225 (GBP) |
| Organisation | Muscular Dystrophy UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | Research leadership funding |
| Amount | £116,126 (GBP) |
| Organisation | Great Ormond Street Hospital Children's Charity (GOSHCC) |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | Royal Society URF |
| Amount | £317,000 (GBP) |
| Organisation | The Royal Society |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 10/2015 |
| End | 10/2018 |
| Description | SMA Coordinator |
| Amount | £10,000 (GBP) |
| Organisation | Jennifer Trust for Spinal Muscular Atrophy |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | SMA prevalence data |
| Amount | £121,333 (GBP) |
| Organisation | Biogen Idec |
| Sector | Private |
| Country | United States |
| Start | 07/2015 |
| End | 06/2016 |
| Description | Sarepta Therapeutics Inc |
| Amount | £2,839,670 (GBP) |
| Organisation | Sarepta Therapeutics Inc. |
| Sector | Private |
| Country | United States |
| Start | 01/2020 |
| End | 12/2022 |
| Description | Second generation exon-skipping therapy combined with pharmacological inhibition of the sodium-hydrogen exchanger: effects on cardiac and skeletal muscle in a mouse model of DMD. |
| Amount | £105,143 (GBP) |
| Organisation | Jesse's Journey |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 08/2015 |
| End | 07/2017 |
| Description | Senior Clinical Fellowship |
| Amount | £283,711 (GBP) |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 04/2018 |
| End | 03/2019 |
| Description | Senior Clinical Fellowship - 2nd renewal |
| Amount | £1,300,000 (GBP) |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | Senior Clinical Fellowship - 2nd renewal |
| Amount | £1,300,000 (GBP) |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | Senior Investigator Award |
| Amount | £75,000 (GBP) |
| Organisation | National Institute for Health Research |
| Sector | Public |
| Country | United Kingdom |
| Start | 04/2013 |
| End | 01/2018 |
| Description | Senior Investigator Award Renewal |
| Amount | £45,000 (GBP) |
| Organisation | National Institute for Health Research |
| Department | NIHR Biomedical Research Centre |
| Sector | Public |
| Country | United Kingdom |
| Start | 04/2015 |
| End | 03/2018 |
| Description | Solve-RD |
| Amount | € 20,000 (EUR) |
| Funding ID | 779257 |
| Organisation | European Union |
| Sector | Public |
| Country | European Union (EU) |
| Start | 01/2018 |
| End | 12/2022 |
| Description | Starter Grant |
| Amount | € 1,500,000 (EUR) |
| Organisation | European Research Council (ERC) |
| Sector | Public |
| Country | Belgium |
| Start | |
| Description | Starter Grant - consolidator |
| Amount | £1,139,280 (GBP) |
| Organisation | European Research Council (ERC) |
| Sector | Public |
| Country | Belgium |
| Start | |
| Description | Stem cell function in dystroglyanopathies (co-investigator) |
| Amount | £160,000 (GBP) |
| Organisation | Muscular Dystrophy UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 09/2008 |
| End | 08/2011 |
| Description | Strengthening the neuromuscular junction as a new concept for the treatment of congenital myasthenic syndromes and motor neuropathies with synaptic dysfunction |
| Amount | £170,000 (GBP) |
| Funding ID | 201064/Z/16/Z |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 07/2016 |
| End | 06/2018 |
| Description | Studying a rare mitochondrial disease to better understand a common eye disease |
| Amount | £200,000 (GBP) |
| Organisation | Charities Aid Foundation |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | Synaptopathies: genetics, biophysics and circuit mechanisms of paroxysmal neurological disorders |
| Amount | £4,194,451 (GBP) |
| Funding ID | 104033/Z/14/Z |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 04/2015 |
| End | 03/2020 |
| Description | TREAT-NMD Advisory Committee for Therapeutics |
| Amount | £10,000 (GBP) |
| Organisation | Muscular Dystrophy UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 10/2015 |
| End | 09/2016 |
| Description | TREAT-NMD Operating Grant |
| Amount | £35,658 (GBP) |
| Funding ID | 36825 |
| Organisation | European Commission |
| Sector | Public |
| Country | European Union (EU) |
| Start | 01/2013 |
| End | 12/2013 |
| Description | TREAT-NMD registry |
| Amount | £8,571 (GBP) |
| Organisation | University of La Rochelle |
| Sector | Academic/University |
| Country | France |
| Start | 08/2015 |
| End | 10/2015 |
| Description | Testosterone Therapy in DMD |
| Amount | £172,114 (GBP) |
| Organisation | Duchenne Now |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 11/2015 |
| End | 01/2018 |
| Description | The role of cardiomyocyte senescence and cardiac regeneration in ageing |
| Amount | £295,743 (GBP) |
| Funding ID | PG/15/85/31744 |
| Organisation | British Heart Foundation (BHF) |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 02/2016 |
| End | 01/2019 |
| Description | Therapeutic Intervention Award |
| Amount | £47,077 (GBP) |
| Organisation | University College London |
| Department | Faculty of Medical Sciences |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | |
| Description | TransNAT: Transforming delivery, safety, and efficacy of nucleic acid therapeutics; from intracellular uptake to targeting brain, heart and muscle |
| Amount | £1,777,003 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | 10/2022 |
| End | 09/2025 |
| Description | Ultragenyx MYO-SEQ |
| Amount | £199,949 (GBP) |
| Organisation | Ultragenyx Pharmaceutical Inc |
| Sector | Private |
| Country | United States |
| Start | 10/2014 |
| End | 02/2016 |
| Description | Validation of Serum Biomarkers for DMD |
| Amount | £21,230 (GBP) |
| Organisation | French Muscular Dystrophy Association (AFM) |
| Sector | Charity/Non Profit |
| Country | France |
| Start | 01/2015 |
| End | 12/2016 |
| Description | Vascular abnormalities in Spinal Muscular Atrophy. |
| Amount | £99,500 (GBP) |
| Organisation | Great Ormond Street Hospital Children's Charity (GOSHCC) |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 02/2016 |
| End | 07/2017 |
| Description | Wellcome SIMOA Equipment grant |
| Amount | £200,000 (GBP) |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 06/2015 |
| End | 06/2018 |
| Description | Wellcome Trust Centre renewal |
| Amount | £6,336,817 (GBP) |
| Funding ID | 203105/Z/16/Z |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 05/2017 |
| End | 04/2022 |
| Description | Wellcome Trust Investigator Award |
| Amount | £1,150,000 (GBP) |
| Funding ID | 109915/Z/15/Z |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 04/2016 |
| End | 03/2021 |
| Description | Wellcome Trust Pathfinder (co-investigator with Professor Hanns Lochmüller) |
| Amount | £170,852 (GBP) |
| Funding ID | 201064/Z/16/Z |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 04/2016 |
| End | 09/2017 |
| Description | Wellcome Trust Senior Fellowship Enhancement |
| Amount | £290,000 (GBP) |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Title | AR121 Mouse |
| Description | Kennedy's Disease mouse model |
| Type Of Material | Model of mechanisms or symptoms - mammalian in vivo |
| Provided To Others? | No |
| Impact | Paper to follow. |
| Title | Adult North-Star Database |
| Description | Prospective data collection for natural history study of hundreds of young adults with Duchenne Muscular Dystrophy; coordination of 18 centres. |
| Type Of Material | Biological samples |
| Year Produced | 2010 |
| Provided To Others? | Yes |
| Impact | Growth of national database. |
| Title | Analysis of cardiac function in mouse models |
| Description | Techniques to assess the cardiac phenotype of mouse models of muscular dystrophy in vivo. This includes analysis of the heart structure and function using MRI and conductance catheter studies to define the pressure-volume relationship of the cardiac cycle in live animals. |
| Type Of Material | Model of mechanisms or symptoms - mammalian in vivo |
| Year Produced | 2011 |
| Provided To Others? | Yes |
| Impact | Recent publications: Bauer et al. 2009, Bauer et al. 2010. |
| Title | Biobank myoblast muscle cell lines |
| Description | Myoblasts cell lines have been established on over 1000 patients as part of routine diagnostics in our centre. Patients are consented to provide this as a gift to research. Cell lines are used for basic research activity. |
| Type Of Material | Biological samples |
| Year Produced | 2006 |
| Provided To Others? | Yes |
| Impact | Joint publication in Journal of Biological chemistry 2007 investigating mtiochondrial dysfunction in patients with mitochondrial diseases. |
| Title | CMS: Gfpt1tm1a(EUCOMM(Wtsi |
| Description | The Gfpt1 inducible knockout strain is derived from teh EUCOMM programme via the Neuromouse Consortium. The mouse strain has a Flp and Cre responsive targeted modification in exon 7 or the mouse Gfpt1 which can be used to generate either a LacZ expressing allele linked to the Gfpt1 promoter, or an Cre-inducible null allele for tissue-specific targeting. |
| Type Of Material | Model of mechanisms or symptoms - mammalian in vivo |
| Provided To Others? | No |
| Impact | The strain remains under development and there are no significant outputs yet. |
| Title | CMT DNA Bank |
| Description | DNA samples from Charcot Marie Tooth patients |
| Type Of Material | Biological samples |
| Provided To Others? | No |
| Impact | None as yet |
| Title | CMT International Database |
| Description | Produced a minimal dataset for a CMT international database. |
| Type Of Material | Biological samples |
| Provided To Others? | No |
| Impact | Published as workshop report in Neuromuscular Disorders PMID 20850975. |
| URL | http://europepmc.org/abstract/MED/20850975 |
| Title | CMT cohort |
| Description | Natural history patient data |
| Type Of Material | Biological samples |
| Year Produced | 2009 |
| Provided To Others? | Yes |
| Impact | None as yet |
| Title | Cardiomyocyte hypertrophy assay |
| Description | Methodology to assess the degree of hypertrophy induced by serum starvation. This is larger in dystrophic cardiomyocytes enabling selection for agents which may influence the cardiac phenotype in muscular dystrophy |
| Type Of Material | Technology assay or reagent |
| Provided To Others? | No |
| Impact | None to date |
| Title | Channelopathy DNA Bank |
| Description | DNA samples from channelopathy patients |
| Type Of Material | Biological samples |
| Provided To Others? | No |
| Impact | None as yet |
| Title | Channelopathy cohort |
| Description | Natural history data from channelopathy patients |
| Type Of Material | Biological samples |
| Year Produced | 2010 |
| Provided To Others? | Yes |
| Impact | None as yet |
| Title | Collagen VI fibroblast IF assay |
| Description | Correlation of collagen VI immunofluorescence staining pattern with mutation and clinical presentation. |
| Type Of Material | Technology assay or reagent |
| Year Produced | 2009 |
| Provided To Others? | Yes |
| Impact | Provided to other researchers in 200 and 2009. Improvement in the diagnostic algorithm for Bethlem myopathy. |
| Title | DMD patients |
| Description | DMD patients biological material (primary cell cultures) |
| Type Of Material | Biological samples |
| Year Produced | 2008 |
| Provided To Others? | Yes |
| Impact | Publications |
| URL | https://www.ncbi.nlm.nih.gov/pubmed/24920607 |
| Title | Dysferlin and ANO5 constructs |
| Description | cDNA clones encoding either dysferlin or ANO5 have been inserted in frame with protein tags (myc tab, EGFP etc) for expression in cell culture. |
| Type Of Material | Cell line |
| Year Produced | 2011 |
| Provided To Others? | Yes |
| Impact | Material provided to other researchers in 2008, 2009, 2010 and 2011. Collaborative publications e.g. Hernandez-Deviez 2008 and Cacciottolo 2011. |
| Title | GM mice without Notch1 in Schwann cells |
| Description | GM mice bred without Notch1 in Schwann cells |
| Type Of Material | Model of mechanisms or symptoms - mammalian in vivo |
| Provided To Others? | No |
| Impact | This mouse model has enabled us to study transdifferentiation and regeneration in the peripheral nervous system. |
| Title | GM mice without RBPj in Schwann cells |
| Description | GM mice bred without RBPj in Schwann cells. |
| Type Of Material | Model of mechanisms or symptoms - mammalian in vivo |
| Provided To Others? | No |
| Impact | This mouse model has enabled us to study transdifferentiation and regeneration in the peripheral nervous system. |
| Title | GM mice without c-Jun in Schwann cells |
| Description | GM mice bred without c-Jun in Schwann cells |
| Type Of Material | Model of mechanisms or symptoms - mammalian in vivo |
| Provided To Others? | No |
| Impact | This mouse model has enabled us to study transdifferentiation and regeneration in the peripheral nervous system. |
| Title | IBM DNA Bank |
| Description | DNA samples from Inclusion Body Myositis patients |
| Type Of Material | Biological samples |
| Provided To Others? | No |
| Impact | None as yet |
| Title | IBM-Net |
| Description | Web-based database of patient information from IBM cohort. |
| Type Of Material | Biological samples |
| Year Produced | 2008 |
| Provided To Others? | Yes |
| Impact | Continued growth of database. |
| Title | IHC quantitation |
| Description | to quantify the amount of positive dystrophin fibres in tissue |
| Type Of Material | Antibody |
| Year Produced | 2009 |
| Provided To Others? | Yes |
| Impact | assists in the efficacy outcome of the clinical trial. Peer reivewed publications. |
| URL | https://www.ncbi.nlm.nih.gov/pubmed/25355828 |
| Title | Immunohistochemistry to diagnose mitochondrial disease |
| Description | Improving the diagnosis of mitochondrial disease in muscle biopsies using a quadruple immunofluorescence technique |
| Type Of Material | Biological samples |
| Year Produced | 2015 |
| Provided To Others? | Yes |
| Impact | This research method has been adopted in our diagnostic protocol. |
| Title | Inclusion Body Myositis cohort |
| Description | Natural history data from IBM patients. |
| Type Of Material | Biological samples |
| Year Produced | 2010 |
| Provided To Others? | Yes |
| Impact | None as yet. |
| Title | LGMD2B: C57BL/10.SJL-Dysf, B6..129-Dysftm1Kcam |
| Description | We hold two strains carrying mutations in the Dysferlin gene, one naturally occuring in the SJL/J strain which has been bred onto C57BL/10, and the other a targeted mutation. The mutations both result in a very mild myopathy with late onset, compatible with the relatively mild phenotype of LGMD2B. |
| Type Of Material | Model of mechanisms or symptoms - mammalian in vivo |
| Year Produced | 2013 |
| Provided To Others? | Yes |
| Impact | Understanding the regenerative defect in dysferlinopathy. |
| Title | LGMD2F: Sgcd-/- |
| Description | The Sgcd-/- strain has an engineered null mutation in the delta sarcoglycan gene. In common with the human equivalent found in LGMD2F, the Sgcd-/- strain developes a dilated cardiomyopathy as well as myopathy. As such, this strain serves as a useful model for dilated cardiomyopathy as well as LGMD2F. |
| Type Of Material | Model of mechanisms or symptoms - mammalian in vivo |
| Year Produced | 2013 |
| Provided To Others? | Yes |
| Impact | Testing of therapies aimed at modulating cardiac function, notably beta-blockers and ACE inhibitors. |
| Title | MRC Quantitative MRI Lower Limb Muscle Protocol |
| Description | A comprehensive MRI protocol which quantifies acute and chronic muscle pathology in the lower limbs of patients with neuromuscular diseases. |
| Type Of Material | Data analysis technique |
| Year Produced | 2013 |
| Provided To Others? | Yes |
| Impact | Presentation of the data at international meetings including Peripheral Nerve Society meeting 2013. High impact journal articles submitted. Identifying sensitive outcome measures for clinical trials. |
| Title | Manganese-enhanced MRI (MEMRI) |
| Description | Mangangese is a contrast agent in MRI which mimics calcium, and so shows increased contrast in muscular dystrophy where calcium is aberrantly elevated. |
| Type Of Material | Physiological assessment or outcome measure |
| Provided To Others? | No |
| Impact | Not yet. |
| Title | Mitochondrial cohort |
| Description | Natural history data from mitochondrial patients |
| Type Of Material | Biological samples |
| Year Produced | 2009 |
| Provided To Others? | Yes |
| Impact | None as yet |
| Title | Mutant Mouse |
| Description | New mouse models with mutations in genes known to be causative for neurogeneration in humans. |
| Type Of Material | Model of mechanisms or symptoms - mammalian in vivo |
| Year Produced | 2010 |
| Provided To Others? | Yes |
| Impact | Presentations at meetings. Papers to follow. |
| Title | North-Star |
| Description | Prospective data collection of natural history study of hundreds of children with Duchenne Muscular Dystrophy. |
| Type Of Material | Biological samples |
| Year Produced | 2008 |
| Provided To Others? | Yes |
| Impact | Ongoing collection of data; growth of database. |
| Title | QTRAC |
| Description | QTRAC is the patented technique developed by Professor Hugh Bostock in the Centre for Neuromuscular disease which allows reliable clinical evaluation of peripheral nerve excitability - so called nerve excitability testing. This has been adopted in a number of clinical neurophysiology units worldwide. We have published on this work eg Tomlinson et al Nerve excitability testing in episodic ataxia Brain in press PMID 21106501. |
| Type Of Material | Physiological assessment or outcome measure |
| Year Produced | 2009 |
| Provided To Others? | Yes |
| Impact | PMIDs 21106501, 20095022, 19900504, 20715364. |
| URL | http://europepmc.org/abstract/MED/21106501 |
| Title | Reliability and validity of the CMT neuropathy score as a measure of disability |
| Description | The 2005 CMT neuropathy score has been updated in 2010, and a paediatric version is also being produced. The scale is currently being validated. |
| Type Of Material | Physiological assessment or outcome measure |
| Provided To Others? | No |
| Impact | Reported in workshop report PMID 20850975. |
| URL | http://europepmc.org/abstract/MED/20850975 |
| Title | Smart-Net |
| Description | Prospective data collection of natural history study of hundreds of children with Spinal Muscular Atrophy. |
| Type Of Material | Biological samples |
| Year Produced | 2008 |
| Provided To Others? | Yes |
| Impact | Continued growth of database. |
| Title | Standard battery for investigation of animal models of neuromuscular disease |
| Description | Established core techniques for behavioural assessment of mouse models of neuromuscular disease e.g.: Global behaviour Morphology Nerve and muscle function Nerve function Organ function Biochemistry Cellular function Molecular biolody |
| Type Of Material | Physiological assessment or outcome measure |
| Year Produced | 2008 |
| Provided To Others? | Yes |
| Impact | Publications: PMID 19470612, 18495669, 19913415. |
| URL | http://europepmc.org/abstract/MED/19470612 |
| Title | mdx/Cmah-/- Mouse |
| Description | The mdx model is the standard mammalian model for DMD with a nonsense mutation in exon 23 of the mouse dmd gene. Despite genetic homology with the human disease, mdx has a relatively mild myopathy. The human CMAH gene carries an inactivating deletion and humans do not sxpress this enzyme responsible for a specific sialytion of proteins and so human tissues do not express N-glycoylneuraminic acid (Neu5Gc), and abundant sialic acid derivative in non-human tissues. Expression of CMAH, and hence Neu5Gc, may be associated with protection from specific pathologies in non-human mammals, and the Cmah-/- mdx strain has a more severe, earlier onset myopathy than mdx. |
| Type Of Material | Model of mechanisms or symptoms - mammalian in vivo |
| Provided To Others? | No |
| Impact | Paper published PMID 20668298 Testing and validation of AON therapies in the mouse, especially with regard to improvements in cardiac function after treatment with PPMOs. |
| Title | muscle MRI |
| Description | We correlated muscle MRI to histological findings in muscular dystrophy patients |
| Type Of Material | Improvements to research infrastructure |
| Year Produced | 2008 |
| Provided To Others? | Yes |
| Impact | peer review publication |
| URL | https://www.ncbi.nlm.nih.gov/pubmed/27649492 |
| Title | Mito Disease Cohort UK |
| Description | A database of around 1503 patients with mitochondrial disease, 964 of which were collected in Newcastle. |
| Type Of Material | Database/Collection of data |
| Year Produced | 2011 |
| Provided To Others? | No |
| Impact | All patient data collected is being used to develop clinical guidelines and enrolment in clinical trials. |
| Description | Analysis of cardiac function in mouse models of muscular dystrophy |
| Organisation | Newcastle University |
| Department | School of Biomedical Sciences |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | Provision of the mouse colony, personnel and consumables for the analyses. |
| Collaborator Contribution | Expertise in haemodynamic measurements of cardiac function in rodents. Expertise in MRI analysis. |
| Impact | PMID 19913415, 19233868 and 19259135. |
| Start Year | 2007 |
| Description | Bactevo |
| Organisation | Bactevo Limited |
| Country | United Kingdom |
| Sector | Private |
| PI Contribution | Once "hits" are confirmed in their models, we will will investigate these further for efficacy in patient cell lines. |
| Collaborator Contribution | Bactevo are a SME who are currently screening their library of natural compounds to look for novel molecules that increase mitochondrial mass. Once "hits" are confirmed in their models, the MRG will investigate these further for efficacy in patient cell lines. |
| Impact | No outcomes yet |
| Start Year | 2016 |
| Description | Developing an In Vitro Model of Inclusion Body Myositis |
| Organisation | University College London |
| Department | Institute of Neurology |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | Imparting clinical knowledge and skills. |
| Collaborator Contribution | Developing an in vitro model of Inclusion Body Myositis |
| Impact | ARC grant, one clinical research fellow, one PhD student, one paper in preparation. Clinical trial initiated. Multi-dispclinary - basic and clinical neuroscience. |
| Start Year | 2008 |
| Description | Disease-causing mutant Hsp27 mutations |
| Organisation | University College London |
| Department | Institute of Neurology |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | Clinical expertise. |
| Collaborator Contribution | Modelling the pathogenesis of mutant Hsp27-induced peripheral neuropathy. |
| Impact | One PhD student and one clinical research fellow sponsored by Ipsen. Multidisciplinary - basic and clinical neuroscience. |
| Start Year | 2008 |
| Description | Dose ranging study of AVI-4658 to induce dystrophin expression |
| Organisation | AVI Biopharma, Inc |
| Department | Research and Development AVI Biopharma |
| Country | United States |
| Sector | Private |
| PI Contribution | Study design; clinical, molecular and pathological assessment of DMD patients; Biobank. Clinical support for the trial, laboratory studies on the efficacy of the study drug. |
| Collaborator Contribution | Provided clinical grade study drug. |
| Impact | An intramuscular phase I/II clinical trial in seven DMD boys from October 2007-March 2009. |
| Start Year | 2007 |
| Description | Edison and Mitochondrial Disease |
| Organisation | Edison Pharmaceuticals |
| Country | United States |
| Sector | Private |
| PI Contribution | Running planned clinical drug trial for mitochondrial disease. Supervision of a Clinical Research Fellow for one year. |
| Impact | None as yet. |
| Start Year | 2010 |
| Description | Establishing a Biobank for the MRC Centre for Neuromuscular Diseases |
| Organisation | University College London |
| Department | Institute of Neurology |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | Provided facilities and staff support in form of Biobank Technician. |
| Collaborator Contribution | Provided infrastructure and guidance to establish Biobank for neuromuscular disease. Facilitated relocation of the Dubowitz Neuromuscular Centre to Queen Square. |
| Impact | The Dubowitz Neuromuscular Centre is now fully functional and CPA accredited. It is a valuable resource and a centre of excellence, proving a unique research infrastructure to the MRC Centre for Neuromuscular Diseases. |
| Start Year | 2008 |
| Description | Evaluation of Biomarkers in DMD |
| Organisation | Pfizer Ltd |
| Department | Orphan & Genetic Diseases Research Unit Pfizer |
| Country | United Kingdom |
| Sector | Private |
| PI Contribution | We have provided mouse urine, tissue and myoblasts. |
| Collaborator Contribution | Pfizer will shortly analyse the samples derived from our models for specific biomarkers. |
| Impact | Further collaborative work in patient samples. |
| Start Year | 2010 |
| Description | FOR-DMD: a large-scale multi-centre trial of steroids in DMD |
| Organisation | University of Rochester |
| Country | United States |
| Sector | Academic/University |
| PI Contribution | Patient recruitment and data analysis. Collecting and processing data, provision of our own patient data. |
| Collaborator Contribution | Coordination of trial, patient recruitment and data management |
| Impact | None to date. |
| Start Year | 2010 |
| Description | GSK and Muscle MRI |
| Organisation | GlaxoSmithKline (GSK) |
| Department | Research and Development GSK |
| Country | United Kingdom |
| Sector | Private |
| PI Contribution | Management of MRI Physicist working on muscle MRI project for two years. |
| Impact | None as yet. |
| Start Year | 2009 |
| Description | IBM-Net |
| Organisation | Muscular Dystrophy UK |
| Country | United Kingdom |
| Sector | Charity/Non Profit |
| PI Contribution | Addition of patient data to web-based cohort of IBM patients. |
| Collaborator Contribution | Addition of patient data to web-based cohort of IBM patients.Addition of patient data to web-based cohort of IBM patients. Addition of patient data to web-based cohort of IBM patients. Addition of patient data to web-based cohort of IBM patients. |
| Impact | Development of IBM-Net database. |
| Start Year | 2008 |
| Description | IBM-Net |
| Organisation | Newcastle upon Tyne Hospitals NHS Foundation Trust |
| Department | Neurology Service |
| Country | United Kingdom |
| Sector | Hospitals |
| PI Contribution | Addition of patient data to web-based cohort of IBM patients. |
| Collaborator Contribution | Addition of patient data to web-based cohort of IBM patients.Addition of patient data to web-based cohort of IBM patients. Addition of patient data to web-based cohort of IBM patients. Addition of patient data to web-based cohort of IBM patients. |
| Impact | Development of IBM-Net database. |
| Start Year | 2008 |
| Description | IBM-Net |
| Organisation | Salford Royal NHS Foundation Trust |
| Department | Department of Neurology |
| Country | United Kingdom |
| Sector | Hospitals |
| PI Contribution | Addition of patient data to web-based cohort of IBM patients. |
| Collaborator Contribution | Addition of patient data to web-based cohort of IBM patients.Addition of patient data to web-based cohort of IBM patients. Addition of patient data to web-based cohort of IBM patients. Addition of patient data to web-based cohort of IBM patients. |
| Impact | Development of IBM-Net database. |
| Start Year | 2008 |
| Description | IBM-Net |
| Organisation | University Hospital Southampton NHS Foundation Trust |
| Department | Department of Neurology |
| Country | United Kingdom |
| Sector | Hospitals |
| PI Contribution | Addition of patient data to web-based cohort of IBM patients. |
| Collaborator Contribution | Addition of patient data to web-based cohort of IBM patients.Addition of patient data to web-based cohort of IBM patients. Addition of patient data to web-based cohort of IBM patients. Addition of patient data to web-based cohort of IBM patients. |
| Impact | Development of IBM-Net database. |
| Start Year | 2008 |
| Description | IBM-Net |
| Organisation | University of Oxford |
| Department | Nuffield Department of Clinical Neurosciences |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | Addition of patient data to web-based cohort of IBM patients. |
| Collaborator Contribution | Addition of patient data to web-based cohort of IBM patients.Addition of patient data to web-based cohort of IBM patients. Addition of patient data to web-based cohort of IBM patients. Addition of patient data to web-based cohort of IBM patients. |
| Impact | Development of IBM-Net database. |
| Start Year | 2008 |
| Description | Identification and characterisation of CMS genes |
| Organisation | ETH Zurich |
| Country | Switzerland |
| Sector | Academic/University |
| PI Contribution | Patient material, consumables and personnel for gene analysis. |
| Collaborator Contribution | Large-scale mapping and sequencing resources.Patient material. |
| Impact | Clinical paper submitted. Scientific paper in preparation. |
| Start Year | 2007 |
| Description | Identification and characterisation of CMS genes |
| Organisation | University of Otago |
| Department | Department of Medicine |
| Country | New Zealand |
| Sector | Academic/University |
| PI Contribution | Patient material, consumables and personnel for gene analysis. |
| Collaborator Contribution | Large-scale mapping and sequencing resources.Patient material. |
| Impact | Clinical paper submitted. Scientific paper in preparation. |
| Start Year | 2007 |
| Description | Identifying causative genes and pathomechanisms in CMS |
| Organisation | Aarhus University |
| Department | Institute of Human Genetics |
| Country | Denmark |
| Sector | Academic/University |
| PI Contribution | We have provided samples, expertise and consumables. |
| Collaborator Contribution | Information regarding gene function in CMS has been made available to the Newcastle group. Collaborators provided samples, expertise and consumables.Information regarding gene function in CMS has been made available to the Newcastle group. Collaborators provided samples, expertise and consumables. |
| Impact | Joint publications (Beeson et al 2006; Senderek et al. 2011) and grant applications. |
| Start Year | 2006 |
| Description | Identifying causative genes and pathomechanisms in CMS |
| Organisation | University of Oxford |
| Department | Weatherall Institute of Molecular Medicine (WIMM) |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | We have provided samples, expertise and consumables. |
| Collaborator Contribution | Information regarding gene function in CMS has been made available to the Newcastle group. Collaborators provided samples, expertise and consumables.Information regarding gene function in CMS has been made available to the Newcastle group. Collaborators provided samples, expertise and consumables. |
| Impact | Joint publications (Beeson et al 2006; Senderek et al. 2011) and grant applications. |
| Start Year | 2006 |
| Description | Inclusion Body Myositis |
| Organisation | Muscular Dystrophy UK |
| Country | United Kingdom |
| Sector | Charity/Non Profit |
| PI Contribution | Sharing patient data and clinical knowledge. Joint supervision of one Clinical Research Fellow working on IBM PhD project. |
| Collaborator Contribution | Sharing patient data and clinical knowledge.Sharing patient data and clinical knowledge. Joint supervision of one Clinical Research Fellow. |
| Impact | One clinical research fellow working on IBM PhD project, jointly supervised by MRC Centre for Neuromuscular Diseases and University of Oxford. |
| Start Year | 2008 |
| Description | Inclusion Body Myositis |
| Organisation | Senexis Ltd Cambridge |
| Country | United Kingdom |
| Sector | Private |
| PI Contribution | Sharing patient data and clinical knowledge. Joint supervision of one Clinical Research Fellow working on IBM PhD project. |
| Collaborator Contribution | Sharing patient data and clinical knowledge.Sharing patient data and clinical knowledge. Joint supervision of one Clinical Research Fellow. |
| Impact | One clinical research fellow working on IBM PhD project, jointly supervised by MRC Centre for Neuromuscular Diseases and University of Oxford. |
| Start Year | 2008 |
| Description | Inclusion Body Myositis |
| Organisation | University of Manchester |
| Department | School of Medicine Manchester |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | Sharing patient data and clinical knowledge. Joint supervision of one Clinical Research Fellow working on IBM PhD project. |
| Collaborator Contribution | Sharing patient data and clinical knowledge.Sharing patient data and clinical knowledge. Joint supervision of one Clinical Research Fellow. |
| Impact | One clinical research fellow working on IBM PhD project, jointly supervised by MRC Centre for Neuromuscular Diseases and University of Oxford. |
| Start Year | 2008 |
| Description | Inclusion Body Myositis |
| Organisation | University of Oxford |
| Department | Nuffield Department of Clinical Neurosciences |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | Sharing patient data and clinical knowledge. Joint supervision of one Clinical Research Fellow working on IBM PhD project. |
| Collaborator Contribution | Sharing patient data and clinical knowledge.Sharing patient data and clinical knowledge. Joint supervision of one Clinical Research Fellow. |
| Impact | One clinical research fellow working on IBM PhD project, jointly supervised by MRC Centre for Neuromuscular Diseases and University of Oxford. |
| Start Year | 2008 |
| Description | Investigating Gars Mouse |
| Organisation | The Jackson Laboratory |
| Country | United States |
| Sector | Charity/Non Profit |
| PI Contribution | Providing mice and skills. |
| Collaborator Contribution | Specific skills, experience and mouse models. |
| Impact | PMID 19470612. |
| Start Year | 2008 |
| Description | Investigating LOA mouse |
| Organisation | University of Sussex |
| Department | Brighton and Sussex Medical School |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | Providing mice and skills. |
| Collaborator Contribution | Specific skills, experience and facilities. |
| Impact | PMID 20382740. |
| Start Year | 2007 |
| Description | Investigating novel TDP43 mutant mice |
| Organisation | University College London |
| Department | Institute of Neurology |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | Clinical expertise. |
| Collaborator Contribution | Physiological phenotyping of mutant TDP43 mice. |
| Impact | One PhD student, two grants. Multidisciplinary - genetics and physiology. |
| Start Year | 2009 |
| Description | Kennedy's Disease Research |
| Organisation | University College London |
| Department | Institute of Neurology |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | Skills and clinical knowledge |
| Collaborator Contribution | Investigating the pathogenesis of Kennedy's disease in vivo and in vitro |
| Impact | Research donation; PhD student, three papers in preparation. Multi-disciplinary - basic and clinical neuroscience. |
| Start Year | 2007 |
| Description | MRC SMA Grant |
| Organisation | Medical Research Council (MRC) |
| Department | MRC Laboratory of Molecular Biology (LMB) |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | preclinical model of SMA; vascular defects; generation of a chronic model to explore window of intervention |
| Collaborator Contribution | novel backbones for the antisense |
| Impact | PMID: 26506088; 26264577 |
| Start Year | 2015 |
| Description | MRC SMA Grant |
| Organisation | University of Oxford |
| Department | Department of Physiology, Anatomy and Genetics |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | preclinical model of SMA; vascular defects; generation of a chronic model to explore window of intervention |
| Collaborator Contribution | novel backbones for the antisense |
| Impact | PMID: 26506088; 26264577 |
| Start Year | 2015 |
| Description | MRI analyses in muscular dystrophy |
| Organisation | Pierre and Marie Curie University - Paris 6 |
| Department | UMR 787 (Institute of Myology) |
| Country | France |
| Sector | Academic/University |
| PI Contribution | Clinical Fellow (Dr Penny Garood) undertook research to develop MRI scanning techniques, and performed clinical research into MRI applications. |
| Collaborator Contribution | Expertise in MRI. |
| Impact | PMID 19856446. |
| Start Year | 2007 |
| Description | MRI in LGMD2I |
| Organisation | University of Copenhagen |
| Department | Department of Medicine |
| Country | Denmark |
| Sector | Academic/University |
| PI Contribution | Clinical Fellow (Dr Tracy Willis) leading the Newcastle end of the collaboration. Provided patient recruitment resources and MRI scanning time. |
| Collaborator Contribution | Expertise in functional analysis of muscle and MRI. |
| Impact | Publication in preparation. |
| Start Year | 2007 |
| Description | Mexiletine and Myotonia Congenita |
| Organisation | Shire Pharmaceuticals |
| Country | Ireland |
| Sector | Private |
| PI Contribution | Providing clinical information regarding the side effects of mexiletine in myotonia congenita cohort. |
| Impact | None to date |
| Start Year | 2010 |
| Description | Mitochondrial dysfunction in ALS |
| Organisation | University College London |
| Department | Institute of Neurology |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | Clinical knowledge. |
| Collaborator Contribution | Primary cultures of muscles, astrocytes and motoneurons from transgenic mice. |
| Impact | Two PhD students; one paper - Bisland et al 2009. Multidisciplinary - cellular physiology and confocal fluorescent imaging. |
| Start Year | 2007 |
| Description | Muscle stem cells for therapies in muscular dystrophy |
| Organisation | University College London |
| Department | Institute of Child Health |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | Development of optimal dystrophin constructs for gene replacement. |
| Collaborator Contribution | Myogenic cell characterisation and lentiviral vector design. |
| Impact | None to date. |
| Start Year | 2007 |
| Description | Muscle stem cells in mitochondrial disease |
| Organisation | Newcastle University |
| Department | School of Biomedical Sciences |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | Myoblast culture and analysis techniques. |
| Collaborator Contribution | Expertise in analysis of mitochondria. |
| Impact | Development of student's skill set. Publication in preparation. |
| Start Year | 2007 |
| Description | NMD-CHIP |
| Organisation | National Institute of Health and Medical Research (INSERM) |
| Country | France |
| Sector | Academic/University |
| PI Contribution | Development of diagnostic tests and reagents. |
| Collaborator Contribution | By tracking the latest developments in NMD diagnostics, we have been able to analyse our patient cohorts for novel genes. |
| Impact | None to date. |
| Start Year | 2008 |
| Description | National Neuromuscular Database |
| Organisation | Great Ormond Street Hospital (GOSH) |
| Department | Department of Neurology |
| Country | United Kingdom |
| Sector | Hospitals |
| PI Contribution | Contributing to and shared management of national neuromuscular database. |
| Collaborator Contribution | Contribution of data and joint management of database.Contribution of data and joint management of umbrella database.Contribution of data and joint management of umbrella database. |
| Impact | Growth and development of national neuromuscular database comprising data from four individual databases: IBM-Net Smart-Net NorthStar Congenital Muscular Dystrophy database |
| Start Year | 2009 |
| Description | National Neuromuscular Database |
| Organisation | Newcastle University |
| Department | Institute of Human Genetics |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | Contributing to and shared management of national neuromuscular database. |
| Collaborator Contribution | Contribution of data and joint management of database.Contribution of data and joint management of umbrella database.Contribution of data and joint management of umbrella database. |
| Impact | Growth and development of national neuromuscular database comprising data from four individual databases: IBM-Net Smart-Net NorthStar Congenital Muscular Dystrophy database |
| Start Year | 2009 |
| Description | National Neuromuscular Database |
| Organisation | University College London |
| Department | Institute of Child Health |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | Contributing to and shared management of national neuromuscular database. |
| Collaborator Contribution | Contribution of data and joint management of database.Contribution of data and joint management of umbrella database.Contribution of data and joint management of umbrella database. |
| Impact | Growth and development of national neuromuscular database comprising data from four individual databases: IBM-Net Smart-Net NorthStar Congenital Muscular Dystrophy database |
| Start Year | 2009 |
| Description | Natural History Study of Dysferlinopathy |
| Organisation | Aix-Marseille University |
| Department | Faculty of Medicine |
| Country | France |
| Sector | Academic/University |
| PI Contribution | Coordination of the study, patient recruitment and data analysis. |
| Collaborator Contribution | Coordination of trial, patient recruitment and data management.Patient recruitment and data analysis. |
| Impact | None to date. |
| Start Year | 2010 |
| Description | Natural History Study of Dysferlinopathy |
| Organisation | University of Barcelona |
| Country | Spain |
| Sector | Academic/University |
| PI Contribution | Coordination of the study, patient recruitment and data analysis. |
| Collaborator Contribution | Coordination of trial, patient recruitment and data management.Patient recruitment and data analysis. |
| Impact | None to date. |
| Start Year | 2010 |
| Description | New in vitro models for DMD using iPSC |
| Organisation | University of Nottingham |
| Department | School of Clinical Sciences Nottingham |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | By extending our collaborative links to a group working on iPSC we have gained valuable technological insights, unique experimental materials and access to a wider collaborative network. We have provided fibroblasts from dystrophic patients and technical support and expertise in analysing derived cardiomyocytes. |
| Collaborator Contribution | The Nottingham group have provided us with iPSC cells and have trained our technician in their generation and maintenance. |
| Impact | Joint grant applications (outstanding) and joint publications (Dick et al. 2010 and in preparation). |
| Start Year | 2009 |
| Description | North-Star |
| Organisation | Muscular Dystrophy UK |
| Country | United Kingdom |
| Sector | Charity/Non Profit |
| PI Contribution | Prospective data collection for natural history study of hundreds of children with Duchenne Muscular Dystrophy; coordination of 18 centres. |
| Collaborator Contribution | Administrative support. |
| Impact | Ongoing growth of database. |
| Start Year | 2008 |
| Description | Notch and c-Jun signalling in Schwann cells |
| Organisation | San Raffaele Hospital |
| Department | San Raffaele Scientific Institute (SRSI) |
| Country | Italy |
| Sector | Academic/University |
| PI Contribution | We mated the Po-CRE mice with other mice and analysed the result. |
| Collaborator Contribution | The collaboration enabled us to generate mice without RBPj and c-June in Schwann cells. The collaborator provided us with Po-CRE mice. |
| Impact | Two papers: PMID 19525946 and PMID 18490512. |
| Start Year | 2006 |
| Description | Notch signalling in Schwann Cells |
| Organisation | Erasmus MC |
| Country | Netherlands |
| Sector | Hospitals |
| PI Contribution | We mated the DhhCRE mice with other mice, and analysed the result. |
| Collaborator Contribution | The collaboration enabled us to generate mice without RBPj in Schwann cells. The collaborator provided us with DhhCRE mice. |
| Impact | One paper: PMID 19525946 |
| Start Year | 2006 |
| Description | PTRF-cavin in muscle disease |
| Organisation | Free University of Berlin |
| Department | Medical School Berlin |
| Country | Germany |
| Sector | Academic/University |
| PI Contribution | Patient material. |
| Collaborator Contribution | PTFR-cavin resources. |
| Impact | PMID 20300641. |
| Start Year | 2007 |
| Description | Rudiger Rudolf Collaboration |
| Organisation | Faculty of Biotechnology |
| Country | Germany |
| Sector | Academic/University |
| PI Contribution | Investigation of sympathetic innovation of neuromuscular junctions |
| Collaborator Contribution | linking sympathetic innovations of neuromuscular junctions to disease conditions |
| Impact | sympathetic innervation controls homeostatsis in health and disease Proac NAt academy science USA jan 2016 doi: 10.1073 |
| Start Year | 2015 |
| Description | SOD1 GFP Investigation |
| Organisation | Cancer Research UK |
| Department | Cancer Research UK London Research Institute (LRI) |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | Providing mice and skills. |
| Collaborator Contribution | Resources and skills.Facilities and skills. |
| Impact | PMID 20221404. |
| Start Year | 2008 |
| Description | SOD1 GFP Investigation |
| Organisation | Harvard University |
| Department | Harvard Medical School |
| Country | United States |
| Sector | Academic/University |
| PI Contribution | Providing mice and skills. |
| Collaborator Contribution | Resources and skills.Facilities and skills. |
| Impact | PMID 20221404. |
| Start Year | 2008 |
| Description | Schwann cell dedifferentiation and regeneration |
| Organisation | University College London |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | We analysed the results. |
| Collaborator Contribution | The collaboration has enabled us to study regeneration in the facial nerve. The collaborator provided knowledge of the facial nerve. |
| Impact | No papers to date. |
| Start Year | 2008 |
| Description | Schwann cell deymelination |
| Organisation | Cancer Research UK |
| Department | Cancer Research UK London Research Institute (LRI) |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | Our lab bred the mice and and analysed the progeny. |
| Collaborator Contribution | The collaboration enabled us to study c-Jun function in vivo. The collaborator provided us with GM mice. |
| Impact | Paper PMID 18490512. |
| Start Year | 2008 |
| Description | Schwann cell precursors and regeneration |
| Organisation | King's College London |
| Department | School of Biomedical Sciences KCL |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | We provided Schwann cell precursors and analysed the results. |
| Collaborator Contribution | The collaborator has enabled us to study regeneration in the spinal cord. The collaborator carried out operations on the spinal cord. |
| Impact | One paper: PMID 18484102 |
| Start Year | 2007 |
| Description | Smart-Net |
| Organisation | Muscular Dystrophy UK |
| Country | United Kingdom |
| Sector | Charity/Non Profit |
| PI Contribution | Prospective data collection for natural history study of hundreds of children with spinal muscular atrophy; coordination of 18 centres. |
| Collaborator Contribution | Administrative support. |
| Impact | Continuing expansion of database. |
| Start Year | 2008 |
| Description | Stem cell function in the dystroglycanopathies |
| Organisation | Royal Veterinary College (RVC) |
| Department | Veterinary Basic Sciences |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | Skills and knowledge imparted from team at Dubowitz Neuromuscular Centre, UCL Institute of Child Health. |
| Collaborator Contribution | Skills and knowledge. |
| Impact | None as yet |
| Start Year | 2008 |
| Description | Studying a novel gene for motor neuron degeneration |
| Organisation | MRC Harwell |
| Department | MRC Mammalian Genetics Unit |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | Providing new models for analysis of neurodegeneration. |
| Collaborator Contribution | The partnership has extended the research into new areas. |
| Impact | Awarded a grant for £110,000 from the Motor Neuron Diseases Association for a PhD student. |
| Start Year | 2009 |
| Description | Studying new mouse models of ALS |
| Organisation | University College London |
| Department | Institute of Neurology |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | Clinical expertise. |
| Collaborator Contribution | Phenotyping of mouse models of ALS. |
| Impact | One clinical research fellow. Multidisciplinary - genetics and physiology. |
| Start Year | 2007 |
| Description | Therapeutic approaches in the dystroglycanopathies |
| Organisation | Royal Veterinary College (RVC) |
| Department | Veterinary Basic Sciences |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | Skills and experience imparted from team at Dubowitz Neuromuscular Centre, UCL Institute of Child Health. |
| Collaborator Contribution | Skills and experience. |
| Impact | None as yet. Multidisciplinary - clinicians and basic scientists. |
| Start Year | 2008 |
| Description | Translational research in mitochondrial disease |
| Organisation | Medical Research Council (MRC) |
| Department | MRC Mitochondrial Biology Unit |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | Patient data from mitochondrial patient cohort. |
| Collaborator Contribution | Patient data, lab skills, sharing of clinical knowledge. |
| Impact | None as yet |
| Start Year | 2010 |
| Description | Translational research in muscular dystrophy |
| Organisation | Ludwig Maximilian University of Munich (LMU Munich) |
| Department | Faculty of Medicine |
| Country | Germany |
| Sector | Academic/University |
| PI Contribution | Patient material, clinical data, molecular analyses. |
| Collaborator Contribution | Patient material, clinical data, molecular analyses.Patient material, clinical data, molecular analyses. |
| Impact | Numerous publications, particularly PMID 20405137 and 20346669, 20562457. |
| Start Year | 2007 |
| Description | Translational research in muscular dystrophy |
| Organisation | University of Otago |
| Department | Department of Medicine |
| Country | New Zealand |
| Sector | Academic/University |
| PI Contribution | Patient material, clinical data, molecular analyses. |
| Collaborator Contribution | Patient material, clinical data, molecular analyses.Patient material, clinical data, molecular analyses. |
| Impact | Numerous publications, particularly PMID 20405137 and 20346669, 20562457. |
| Start Year | 2007 |
| Description | UCL - Dr Francesco Saverio Tedesco |
| Organisation | University College London |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | Our research associate has submitted a Henry Wellcome application containing work for which she would travel to Dr. Tedescos lab to learn a technique developed by Dr Tedesco's group. |
| Collaborator Contribution | Dr Tedesco is starting to optimise methods for further development of the model. |
| Impact | None yet |
| Start Year | 2017 |
| Description | UK Heart Protection Trial |
| Organisation | Newcastle University |
| Department | Institute of Human Genetics |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | Patient recruitment and data analysis. |
| Collaborator Contribution | Clinical care and research. |
| Impact | Contribution to the standards of care. PMID 19945913. |
| Start Year | 2007 |
| Description | iPSCs for modelling dystrophic cardiomyoctes |
| Organisation | University of Nottingham |
| Department | School of Molecular Medical Sciences Nottingham |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | Derivation of patient fibroblasts, characterisation. |
| Collaborator Contribution | Development of iPSC lines from DMD fibroblasts. |
| Impact | iPSCs derived and characterised. Publication in preparation. |
| Start Year | 2007 |
| Title | COL6 intron 11 mutation splicing correction |
| Description | Identification of effective sequences to induce pseudoexon exclusion from pre-MRNA of COL6A1 |
| IP Reference | 17824010-0 111 |
| Protection | Patent granted |
| Year Protection Granted | 2019 |
| Licensed | No |
| Impact | We are currently engaging 2 industrial partners to take this forward for future clinical trials |
| Title | IN VITRO GENETIC DIAGNOSTIC OF INHERITED NEUROMUSCULAR DISORDERS |
| Description | The present invention provides a method for determining all the molecular causes of Inherited Neuromuscular Disorders comprising determining a number of copy number variation(s), and/or determining a number of point mutation(s) on a physiological sample comprising a genome of a subject. |
| IP Reference | WO2014037526 |
| Protection | Patent granted |
| Year Protection Granted | 2014 |
| Licensed | No |
| Impact | N/A |
| Title | A Phase 3 Randomized, Double-Blind, Placebo-Controlled Trial to Evaluate the Efficacy and Safety of Daily Subcutaneous Injections of Elamipretide in Subjects with Primary Mitochondrial Myopathy Followed by an Open-Label Treatment Extension |
| Description | SPIMM-301 has two parts. In part 1, which will have a duration of 24 weeks, participants will be randomised to elamipretide or placebo (double blinded). Part 2 is an open-label extension- with a duration of 144 weeks. Funding for this trial is provided by Stealth BioTherapeutics Inc., the trial Sponsor. |
| Type | Therapeutic Intervention - Drug |
| Current Stage Of Development | Late clinical evaluation |
| Year Development Stage Completed | 2018 |
| Development Status | Under active development/distribution |
| Impact | The SPIMM 301 study has the potential to result in a treatment for primary mitochondrial myopathy, at present there are no available treatments for this condition. |
| Title | A phase IIb/III of Arimoclomol in IBM |
| Description | Follow up of the phase IIa RCT study concluded in 2012, this clinical trial is in set-up phase and is funded by FDA/Orphazyme (tbc). |
| Type | Therapeutic Intervention - Drug |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2014 |
| Development Status | Under active development/distribution |
| Impact | None as yet. |
| Title | A study of biological prognostic factors for IGM paraproteinemic anti-mag associated peripheral neuropathy |
| Description | Retrospective cohort study including patients from the National Hospital for Neurology, London UK, and the University Hospital of Rennes, France. Open to recruitment. Funded by UCL. |
| Type | Management of Diseases and Conditions |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2013 |
| Development Status | Under active development/distribution |
| Impact | Objective is to determine biological factors in blood and CSF that could be predictive of severity of neuropathies associated with IgM anti-MAG antibodies. No impacts as yet. |
| Title | AFM Natural History Study |
| Description | Document with quantified measurements the natural history of Duchenne Muscular Dystrophy. Open to recruitment. Funded by AFM. |
| Type | Management of Diseases and Conditions |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2013 |
| Development Status | Under active development/distribution |
| Impact | None as yet. |
| Title | Acipimox in Mitochondrial Myopathy (AIMM) Study |
| Description | The aim of the AIMM study is to repurpose the drug acipimox for use in a new indication, namely treatment of patients with mitochondrial myopathy. Acipimox is a niacin derivative and nicotinic acid analogue with activity as a hypolipidaemic agent- it was originally developed and licensed to treat high cholesterol and improve diabetic control. Acipimox has been shown to boost ATP levels within muscle cells and it is this function that we are looking use in order to relieve the debilitating muscle symptoms experienced by some patients with mitochondrial disease and muscle involvement. The AIMM trial is funded via the MRC Biomedical Catalyst Development Pathway Funding Scheme (DPFS). |
| Type | Therapeutic Intervention - Drug |
| Current Stage Of Development | Early clinical assessment |
| Year Development Stage Completed | 2017 |
| Development Status | Under active development/distribution |
| Impact | None yet-still in development however it will target a rare disease or difficult to reach population. Success of this study will potentially impact most on patients with mitochondrial disease, as it may provide a novel therapeutic strategy, in a condition with no currently licensed treatments. If Acipimox demonstrates significant efficacy in the two forms of mitochondrial disease included in this study design, the compound is likely to be beneficial for all forms of mitochondrial disease with significant muscle involvement. Randomized clinical trials and evidence-based studies on the efficacy of treatments in patients with mitochondrial disease is still lacking. In the clinical field of mitochondrial disease, this work will advance future trial design by linking several functional outcome measures with optimized clinical assessments. We would also propose extrapolating the adaptive design methodology into other rare diseases where obtaining the desired patient recruitment and retention proves to be the primary barrier to clinical advancements. The trial will also allow for further refinement of a number of functional outcome measures. |
| Title | Aerobic training in CMT and IBM |
| Description | Exercise trial open to recruitment. |
| Type | Therapeutic Intervention - Physical |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2014 |
| Development Status | Under active development/distribution |
| Impact | None as yet. |
| Title | Arimoclomol for sporadic inclusion body myositis |
| Description | Placebo controlled pilot study assessing safety, efficacy and tolerability of Arimoclomol in adult patients with sIBM. Funded by Arthritis Research UK and the Myositis Support Group. |
| Type | Therapeutic Intervention - Drug |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2013 |
| Development Status | Under active development/distribution |
| Clinical Trial? | Yes |
| Impact | Manuscript in preparation for publication. Follow up trial in set-up phase. |
| Title | Bumetanide in HypoPP |
| Description | Clinical trial in set-up phase, funded by MRC Centre grant. |
| Type | Therapeutic Intervention - Drug |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2014 |
| Development Status | Under active development/distribution |
| Impact | None as yet. |
| Title | CMT International Database |
| Description | Translational research in Europe for the assessment and treatment of neuromuscular diseases (TREAT-NMD) international database in set-up phase. Funded by National Institutes of Health (NIH - USA). |
| Type | Management of Diseases and Conditions |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2013 |
| Development Status | Under active development/distribution |
| Impact | None as yet - set up phase. |
| Title | CMT: A Natural History Study |
| Description | Charcot-Marie-Tooth Disease and related disorders: a natural history study. Open to recruitment. Funded by National Institutes of Health (NIH - USA). |
| Type | Management of Diseases and Conditions |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2014 |
| Development Status | Under active development/distribution |
| Impact | None as yet. |
| Title | DMD114349 |
| Description | An open-label extension study of the long-term safety, tolerability and efficacy of GSK2402968 in subjects with Duchenne Muscular Dystrophy) |
| Type | Therapeutic Intervention - Drug |
| Current Stage Of Development | Late clinical evaluation |
| Year Development Stage Completed | 2012 |
| Development Status | On hold |
| Clinical Trial? | Yes |
| Impact | The study is now being evaluated for definition of best treatment modality in DMD |
| Title | Development of Registries and Biobanks |
| Description | Development of multiple patient registries as part of the wider networking effort (Myotonic dystrophy, FSHD, LGMD2I, etc.). This is also integrated with biobanking and clinical research activities. |
| Type | Support Tool - For Medical Intervention |
| Current Stage Of Development | Initial development |
| Development Status | Under active development/distribution |
| Impact | Improved patient access to clinical researchers, improved integration with international networks and patient organisations. |
| Title | Duchenne Natural History Study |
| Description | AFM Funded: Outcome measures in Duchenne Muscular Dystrophy: a Natural History Study |
| Type | Support Tool - For Medical Intervention |
| Current Stage Of Development | Wide-scale adoption |
| Year Development Stage Completed | 2011 |
| Development Status | Under active development/distribution |
| Impact | The AFM natural history study aims to refine patient and physician reported outcome measures in DMD trials. |
| Title | Efficacy, safety and tolerability of BYM338 in sIBM |
| Description | Clinical trial in set-up phase, funded by Novartis. |
| Type | Therapeutic Intervention - Drug |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2014 |
| Development Status | Under active development/distribution |
| Impact | None as yet. |
| Title | Eteplirsen |
| Description | clinical safety and biochemical efficacy of intravenously administered Eteplirsen in 19 DMD patients. The study drug was well tolerated with no drug related serious adverse events. The study drug is being further developed in the USA and funded by the drug company Sarepta Therapeutics. |
| Type | Therapeutic Intervention - Drug |
| Current Stage Of Development | Early clinical assessment |
| Year Development Stage Completed | 2011 |
| Development Status | Closed |
| Clinical Trial? | Yes |
| Impact | The study drug is being further developed in clinical trials in the USA at higher doses, to improve impact. Data is being anaysed for submission to FDA. |
| URL | https://www.ncbi.nlm.nih.gov/pubmed/21784508 |
| Title | Exercise and sarcopenia |
| Description | Open to recruitment, funded by Medical Research Council. |
| Type | Therapeutic Intervention - Physical |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2014 |
| Development Status | Under active development/distribution |
| Impact | None as yet. |
| Title | Exploring the causes of falls and balance impariments in people with neuromuscular diseases |
| Description | Open to recruitment, funded by NIHR. |
| Type | Therapeutic Intervention - Physical |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2014 |
| Development Status | Under active development/distribution |
| Impact | None as yet. |
| Title | FOR-DMD |
| Description | Closed to recruitment, results under evaluation. |
| Type | Therapeutic Intervention - Drug |
| Current Stage Of Development | Early clinical assessment |
| Year Development Stage Completed | 2014 |
| Development Status | Closed |
| Impact | None as yet. |
| Title | FOR-DMD |
| Description | NIH funded study of corticosteroids in Duchenne muscular dystrophy. Duchenne muscular dystrophy: double-blind randomized trial to find optimum steroid regimen. |
| Type | Therapeutic Intervention - Drug |
| Current Stage Of Development | Wide-scale adoption |
| Development Status | Under active development/distribution |
| Clinical Trial? | Yes |
| UKCRN/ISCTN Identifier | DRKS00004403 |
| Impact | By defining the optimal steroid regime we aim to improve the care of DMD patients worlwide |
| URL | http://www.controlled-trials.com/ISRCTN46102316 |
| Title | FSHD NH Study |
| Description | A multicentre collaborative study on the clinical features, expression profiling, and quality of life of infantile onset fascioscapulohumeral muscular dystrophy. Set-up phase. Funded by NIH (USA). |
| Type | Management of Diseases and Conditions |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2013 |
| Development Status | Under active development/distribution |
| Impact | None as yet. |
| Title | FSHD Registry |
| Description | UK FSHD Patient Registry is a national registry for all people affected by facioscapulohumeral dystrophy living in England, Scotland, Wales and Northern Ireland, and was launched in May 2013. Open to recruitment. Funded by the Muscular Dystrophy Campaign and supported by the TREAT-NMD Alliance. |
| Type | Management of Diseases and Conditions |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2013 |
| Development Status | Under active development/distribution |
| Impact | None as yet. |
| Title | GNE myopathy-disease monitoring programme (GNE-DMP) |
| Description | A registry and prospective observational natural history study to assess HIBM disease. Open to recruitment. Funded by Ultragenyx Pharmaceutical Inc. (USA). |
| Type | Management of Diseases and Conditions |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2013 |
| Development Status | Under active development/distribution |
| Impact | None as yet. |
| Title | GSK Extension Study |
| Description | Closed to recruitment - results under evaluation. |
| Type | Therapeutic Intervention - Drug |
| Current Stage Of Development | Early clinical assessment |
| Year Development Stage Completed | 2014 |
| Development Status | Closed |
| Impact | None as yet. |
| Title | GSK/Prosensa clinical trial in DMD boys with study drug GSK2402968 (PRO051) |
| Description | Phase IIa, double blind, exploratory, parallel clinical trial to assess the optimal dose of GSK2402968 for safety, tolerability, efficacy, in ambulant patients with DMD. Funded by GlaxoSmithKline. |
| Type | Therapeutic Intervention - Drug |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2013 |
| Development Status | Closed |
| Clinical Trial? | Yes |
| Impact | Paper in preparation. |
| Title | Global FKRP Registry |
| Description | International registry for all persons affected by conditions caused by a mutation in the Fukutin-Related Protein (FKRP) gene, namely Limb Girdle Muscular Dystrophy type 2I. Open to recruitment. Funded by the LGMD2I Research Fund. |
| Type | Management of Diseases and Conditions |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2011 |
| Development Status | Under active development/distribution |
| Impact | None as yet. |
| Title | HIBM-PMP |
| Description | Hereditary Inclusion Body Myopathy-Patient Monitoring Program (HIBM-PMP): A Registry and Prospective Observational Natural History Study to Assess HIBM Disease |
| Type | Support Tool - For Medical Intervention |
| Current Stage Of Development | Refinement. Clinical |
| Year Development Stage Completed | 2011 |
| Development Status | Under active development/distribution |
| Clinical Trial? | Yes |
| Impact | The natural history study into HIBM aims to define a patient group for any future clinical trials and the expected disease course. |
| URL | http://clinicaltrials.gov/show/NCT01784679 |
| Title | HOP Study |
| Description | Clinical trial in set-up phase, funded by Muscular Dystrophy Association (USA). |
| Type | Therapeutic Intervention - Drug |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2014 |
| Development Status | Under active development/distribution |
| Impact | None as yet. |
| Title | HYP HOP: Dicholorphenamide vs placebo for periodic paralysis |
| Description | Double-blind, placebo-controlled, parallel group, phase III study comparing dichlorphenamide versus placebo for the treatment of periodic paralysis. Closed to recruitment. Funded by National Institutes of Health (NIH - USA). |
| Type | Therapeutic Intervention - Drug |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2013 |
| Development Status | Closed |
| Clinical Trial? | Yes |
| Impact | Results in analysis. |
| URL | https://clinicaltrials.gov/show/NCT00494507 |
| Title | Heart Protection Study |
| Description | DMD Heart Protection Study: A double-blind randomised multi-centre, placebo-controlled trial of combined ACE-inhibitor and beta-blocker therapy in preventing the development of cardiomyopathy in genetically characterised males with DMD without echo-detectable left ventricular dysfunction |
| Type | Therapeutic Intervention - Drug |
| Current Stage Of Development | Wide-scale adoption |
| Development Status | Under active development/distribution |
| Clinical Trial? | Yes |
| Impact | This study is a double-blind, randomised, multi-centre, placebo-controlled trial. We wish to determine the effect of combined ACE-inhibitor (Perindopril) and beta-blocker (Bisoprolol) therapy in preventing the development of cardiomyopathy in 140 genetically characterised males with Duchenne Muscular Dystrophy (DMD) without echo-detectable left ventricular dysfunction, at five sites across the UK. |
| URL | http://www.controlled-trials.com/ISRCTN50395346 |
| Title | Hereditary Inclusion Body Myopathy - Patient Monitoring Program (HIBM-PMP) |
| Description | A registry and prospective natural history study to assess HIBM disease. Currently recruiting. Funded by Ultragenyx. |
| Type | Management of Diseases and Conditions |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2013 |
| Development Status | Under active development/distribution |
| Impact | None as yet. |
| Title | Identification of disease susceptibility genes associated with development and clinical characteristics of primary inflammatory muscle diseases, PM, DM and IBM |
| Description | Ongoing recruitment. Funded by ARC. |
| Type | Management of Diseases and Conditions |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2013 |
| Development Status | Under active development/distribution |
| Impact | None as yet. |
| Title | International GBS Outcome Study - IGOS |
| Description | Aim is to obtain a detailed and standardised database of clinical features, treatment and diagnostic electrophysiology, and collect a biobank with serum samples and DNA. Open to recruitment. Funded by Wellcome Trust/GBS Support Group. |
| Type | Management of Diseases and Conditions |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2013 |
| Development Status | Under active development/distribution |
| Impact | None as yet. |
| Title | Investigation of Human Neurological Ion Channel Disorders |
| Description | Consolidate and expand on previous work by collating clinical data and continuing to sequence candidate genes in patients suspected to have ion channel disorders. Open to recruitment. Funded by UCLH. |
| Type | Management of Diseases and Conditions |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2013 |
| Development Status | Under active development/distribution |
| Impact | None as yet. |
| Title | Kennedy's Disease - Study and Register |
| Description | National register of patients with Kennedy's Disease (spinal and bulbar muscular atrophy). Open to recruitment. Funded by UCLH. |
| Type | Management of Diseases and Conditions |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2014 |
| Development Status | Under active development/distribution |
| Impact | None as yet. |
| Title | LEMS Disease Registry |
| Description | Voluntary, multi-centre, multinational, observational programme for patients with LEMS disease and is intended to track the routine clinical outcomes of patients with LEMS over time. Funded by BioMarin Europe Ltd. |
| Type | Management of Diseases and Conditions |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2014 |
| Development Status | Under active development/distribution |
| Impact | Registry in set-up phase. |
| Title | LGMD2B Natural History Study |
| Description | Jain Foundation natural history and clinical outcomes study of dysferlinopathy (limb-girdle muscular dystrophy type 2B) |
| Type | Support Tool - For Medical Intervention |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2011 |
| Development Status | Under active development/distribution |
| Impact | The natural history of LGMD2B has not been systematically studied. By understanding the disease course in a large, controlled population drawn from an international population we aim to provide a platform for testing of therapies. |
| Title | Nat-His-MTM |
| Description | Prospective longitudinal study of the natural history and functional status of patients with MyoTubular Myopathy, in set-up phase. Funded by Institute of Myology. |
| Type | Management of Diseases and Conditions |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2013 |
| Development Status | Under active development/distribution |
| Impact | None as yet. |
| Title | Natural history study of hereditary sensory neuropathy type 1 |
| Description | Natural history study of Hereditary Sensory Neuropathy type 1 secondary to SPTLC1 and SPTLC2 mutations. Open to recruitment. Funded by MRC Centre grant. |
| Type | Management of Diseases and Conditions |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2014 |
| Development Status | Under active development/distribution |
| Impact | None as yet. |
| Title | OPTIMISTIC |
| Description | Observational prolonged trial in myotonic dystrophy type 1 to improve quality of life standards, a target identification collaboration. Set-up phase. Funded by EU Seventh Framework Programme. |
| Type | Management of Diseases and Conditions |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2014 |
| Development Status | Under active development/distribution |
| Impact | None as yet. |
| Title | PTC 124 extension phase |
| Description | An Open-Label study for previously treated Ataluren (PTC 124®) Patients with Nonsense mutations Dystrophinopathy |
| Type | Therapeutic Intervention - Drug |
| Current Stage Of Development | Late clinical evaluation |
| Year Development Stage Completed | 2011 |
| Development Status | Under active development/distribution |
| Clinical Trial? | Yes |
| Impact | The extension study of Ataluren aims to further explore the positive outcomes reported by patients on this medication. |
| URL | http://public.ukcrn.org.uk/Search/StudyDetail.aspx?StudyID=14900 |
| Title | PTC124 trial |
| Description | A Phase 3 Efficacy and Safety Study of Ataluren (PTC124) In Patients with Nonsense Mutation Dystrophinopathy. |
| Type | Therapeutic Intervention - Drug |
| Current Stage Of Development | Late clinical evaluation |
| Year Development Stage Completed | 2012 |
| Development Status | Under active development/distribution |
| Clinical Trial? | Yes |
| Impact | Improved understanding of the clinical profileof PTC124 |
| URL | http://public.ukcrn.org.uk/Search/StudyDetail.aspx?StudyID=14900 |
| Title | Physical activity and inclusion body myositis |
| Description | Open to recruitment, funded by the Medical Research Council. |
| Type | Therapeutic Intervention - Physical |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2014 |
| Development Status | Under active development/distribution |
| Impact | None as yet. |
| Title | Pompe neoGAA trial |
| Description | An open-label, multicenter, multinational, ascending dose study of the safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of repeated biweekly infusions of neoGAA in naïve and alglucosidase alpha treated late-onset Pompe disease patients. |
| Type | Therapeutic Intervention - Drug |
| Current Stage Of Development | Late clinical evaluation |
| Year Development Stage Completed | 2012 |
| Development Status | Under active development/distribution |
| Clinical Trial? | Yes |
| Impact | Improved treatment outcomes for Pompe disease patients |
| URL | http://public.ukcrn.org.uk/Search/StudyDetail.aspx?StudyID=15467 |
| Title | Prosensa 045 |
| Description | A phase I/IIa, open-label, escalating dose study to assess the safety and tolerability, pharmacokinetics, pharmacodynamics and clinical effects of multiple subcutaneous doses of PRO045 in subjects with Duchenne muscular dystrophy |
| Type | Therapeutic Intervention - Drug |
| Current Stage Of Development | Late clinical evaluation |
| Year Development Stage Completed | 2011 |
| Development Status | Under active development/distribution |
| Clinical Trial? | Yes |
| Impact | The Prosensa trial aims to evaluate the exon-skipping compound PRO-045 |
| URL | http://public.ukcrn.org.uk/Search/StudyDetail.aspx?StudyID=14391 |
| Title | SKIP NMD |
| Description | This is a new morpholino antisense oligomer to induce exon skipping of exon 53 in Duchenne muscular dystrophy boys http://www.skip-nmd.eu/ First part was a phase I dose escalation study completed in January 2016. Now all children are in the phase II maintenance |
| Type | Therapeutic Intervention - Cellular and gene therapies |
| Current Stage Of Development | Early clinical assessment |
| Year Development Stage Completed | 2017 |
| Development Status | Under active development/distribution |
| Clinical Trial? | Yes |
| Impact | We hope this new morpholino antisense oligomer will obtain accelerated approval, in case we reach the primary endpoints |
| URL | http://www.skip-nmd.eu/ |
| Title | SMA REACH UK |
| Description | Establish the first national clinical and research network names SMA REACH UK (SMA Research And Clinical Hub UK), to establish a national agreement on clinical and physiotherapy assessment and standards of care. Funded by SMA Trust. |
| Type | Management of Diseases and Conditions |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2013 |
| Development Status | Under active development/distribution |
| Impact | None as yet. |
| Title | SMA Registry |
| Description | Part of the TREAT-NMD Global SMA Registry, the UK SMA (Spinal Muscular Atrophy) Registry is for all aptients living in the UK and Ireland who are affected by all types of SMA. Ongoing recruitment. Funded by The Jennifer Trust for Spinal Muscular Atrophy. |
| Type | Management of Diseases and Conditions |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2013 |
| Development Status | Under active development/distribution |
| Impact | None as yet. |
| Title | SMT C1100 |
| Description | Open for recruitment. |
| Type | Therapeutic Intervention - Drug |
| Current Stage Of Development | Early clinical assessment |
| Year Development Stage Completed | 2014 |
| Development Status | Under active development/distribution |
| Impact | None as yet. |
| Title | Safety and efficacy of Olesoxime (TRO19622) in SMA |
| Description | Phase II, multicentre, randomized, adaptive, double-blind, placebo controlled study to assess safety and efficacy of Olesoxime (TRO19622) in 3-25 year old spinal Muscular Atrophy patients. Study completed. Funded by Association Francaise contre les Myopathies. |
| Type | Therapeutic Intervention - Drug |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2014 |
| Development Status | Under active development/distribution |
| Clinical Trial? | Yes |
| Impact | Data in analysis. |
| Title | Safety and efficacy of neoGAA |
| Description | Open to recruitment. |
| Type | Therapeutic Intervention - Drug |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2014 |
| Development Status | Under active development/distribution |
| Impact | None as yet. |
| Title | Study of clinical and radiological changes in teenagers with Duchenne muscular dystrophy theoretically treatable with exon 53 skipping (Pre-U7) |
| Description | Natural history study to monitor the clinical and radiological course of upper limb muscle impairment in patients with DMD, potentially treatable with AAV-mediated exon 53 skipping. Open to recruitment. Funded by Genethon. |
| Type | Management of Diseases and Conditions |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2013 |
| Development Status | Under active development/distribution |
| Impact | None as yet. |
| Title | TAPP |
| Description | Clinical trial in set-up phase, funded by National Institutes of Health (NIH- USA). |
| Type | Therapeutic Intervention - Drug |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2014 |
| Development Status | Under active development/distribution |
| Impact | None yet. |
| Title | The PATH Study |
| Description | Closed to recruitment, results under evaluation. |
| Type | Therapeutic Intervention - Drug |
| Year Development Stage Completed | 2014 |
| Development Status | Closed |
| Impact | None as yet. |
| Title | UK Myotonic Dystrophy Patient Registry |
| Description | UK Myotonic Dystrophy Patient Registry is an online patient driven resource launched in May 2012. open to recruitment. Funded by the Myotonic Dystrophy Support Group. |
| Type | Management of Diseases and Conditions |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2012 |
| Development Status | Under active development/distribution |
| Impact | Primary aim of the registry is to facilitate and accelerate the planning, design and recruitment of clinical research. |
| Title | Using Next Generation Sequencing to Unravel the Pathogenesis of Sporadic Inclusion Body Myositis |
| Description | The international IBM Consortium Genetic Study. Open to recruitment (ongoing). Funded by the Medical Research Council. |
| Type | Management of Diseases and Conditions |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2014 |
| Development Status | Under active development/distribution |
| Impact | None as yet. We expect to identify a number of IBM rare variants that cluster in disease associated genes. |
| Title | Valproate Sodium for McArdle Disease |
| Description | Clinical trial in set-up phase, funded by the Muscular Dystrophy Campaign. |
| Type | Therapeutic Intervention - Drug |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2014 |
| Development Status | Under active development/distribution |
| Impact | None as yet. |
| Description | 6th Form Experience Day |
| Form Of Engagement Activity | Participation in an activity, workshop or similar |
| Part Of Official Scheme? | No |
| Type Of Presentation | Workshop Facilitator |
| Geographic Reach | Local |
| Primary Audience | Schools |
| Results and Impact | 50 pupils were invited to engage with researchers and tour the labs. The schools reported that many pupils found the day interesting and felt motivated to pursue scientific careers. |
| Year(s) Of Engagement Activity | 2012,2013 |
| URL | https://blogs.ncl.ac.uk/igmengagement/ |
| Description | Advances in treatment in neuromuscular disorder talk |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | Regional |
| Primary Audience | Professional Practitioners |
| Results and Impact | Gave a lecture during organised British Neuropathology Society meeting at UCL Institute of Neurology. |
| Year(s) Of Engagement Activity | 2015 |
| Description | Blue Dot Festival 2017 |
| Form Of Engagement Activity | Participation in an activity, workshop or similar |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Public/other audiences |
| Results and Impact | Research Associates and postgraduate students from our Centre organised and manned a stand at the Blue Dot Festival at Jodrell Bank in July 2017 showcasing our research into mitochondrial disease. |
| Year(s) Of Engagement Activity | 2017 |
| URL | https://www.discoverthebluedot.com/news_article/thank-you-2017! |
| Description | British Science Festival 2013 - DMT |
| Form Of Engagement Activity | Participation in an activity, workshop or similar |
| Part Of Official Scheme? | Yes |
| Geographic Reach | International |
| Primary Audience | Public/other audiences |
| Results and Impact | CBAV Director led a public discussion, chaired by the Head of Communications at the Wellcome Trust, about the new IVF technique to prevent mitochondrial disease. The technique has generated huge international media interest. UK Government have approved publication of revised draft regulations allowing this research to go ahead. |
| Year(s) Of Engagement Activity | 2013 |
| Description | British Science Festival 2013 |
| Form Of Engagement Activity | Participation in an open day or visit at my research institution |
| Part Of Official Scheme? | Yes |
| Type Of Presentation | Keynote/Invited Speaker |
| Geographic Reach | National |
| Primary Audience | Public/other audiences |
| Results and Impact | A series of lab tours were arranged and the public introduced to our working environment Many participants reported finding the tours of high interest. |
| Year(s) Of Engagement Activity | 2013 |
| URL | https://blogs.ncl.ac.uk/igmengagement/ |
| Description | CMT Patient Day |
| Form Of Engagement Activity | Participation in an open day or visit at my research institution |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Participants in your research and patient groups |
| Results and Impact | The centre for neuromuscular diseases held the first CMT patient education and information day in 2010. CMT patients and their families came from all over the UK to hear about different aspects of CMT including diagnosis, treatment and care. Members of the entire multidisciplinary CMT team at Queen Square were on hand to answer questions and explain the diagnostic process, care and treatment through practical demonstrations and posters. Patients also had the important opportunity to meet other families who were affected by CMT. . |
| Year(s) Of Engagement Activity | 2010,2011,2012 |
| Description | CMT Patient Day |
| Form Of Engagement Activity | Participation in an activity, workshop or similar |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Public/other audiences |
| Results and Impact | A day of talks for the CMT patient population given by a multidisciplinary team with opportunity for questions and discussion. Request for this annual patient day to continue in 2015. |
| Year(s) Of Engagement Activity | 2014 |
| Description | CMT UK AGM |
| Form Of Engagement Activity | Participation in an activity, workshop or similar |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Participants in your research and patient groups |
| Results and Impact | PI, the President of CMT UK was an invited speaker at the AGM, and facilitated a question and answer session with CMT patients attending the meeting. As a result of this meeting, CMT UK made a contribution towards MRI scanning at the MRC Centre for Neuromuscular Diseases. |
| Year(s) Of Engagement Activity | 2007,2013,2014,2015 |
| URL | http://www.cmt.org.uk |
| Description | CMT book : A practical guide |
| Form Of Engagement Activity | A magazine, newsletter or online publication |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Public/other audiences |
| Results and Impact | Input into CMT a practical guide for patients |
| Year(s) Of Engagement Activity | 2015 |
| Description | CMT patron invited speaker |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Public/other audiences |
| Results and Impact | Invite dplenary speaker |
| Year(s) Of Engagement Activity | 2014,2015,2016 |
| Description | Channelopathy Patient Day |
| Form Of Engagement Activity | Participation in an open day or visit at my research institution |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Participants in your research and patient groups |
| Results and Impact | The centre for neuromuscular diseases held the first channelopathy patient education and information day on 23rd January 2010 at Queen Square. Channelopathy patients and their families came from across the UK to hear about different aspects of channelopathies including diagnosis, treatment and care. Members of the entire multidisciplinary channelopathy team at Queen Square were on hand to answer questions and explain the diagnostic process, care and treatment through practical demonstrations and posters. Patients also had the important opportunity to meet other families who were affected by channelopathies. A second patient day is planned for 2011. |
| Year(s) Of Engagement Activity | 2010,2011,2012 |
| Description | DMT - Invited speaker at MEET event |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Postgraduate students |
| Results and Impact | Invited speaker at the final dissemination event for the Mitochondrial European Educational Training group. |
| Year(s) Of Engagement Activity | 2016 |
| Description | DMT Christmas Lecture |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | Local |
| Primary Audience | Schools |
| Results and Impact | The Children's Christmas Lecture is an annual event sponsored by Newcastle University with high profile speakers. The Centre Director was invited to present the lecture in 2016. Over 300 school children and around 50 representatives of the 'Voice North' panel were invited to attend. This was an interactive lecture about mitochondrial disease, how it affects people and what we hope to achieve with our research. |
| Year(s) Of Engagement Activity | 2016 |
| Description | DMT Invited speaker at UCL ION meeting |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Professional Practitioners |
| Results and Impact | Invited speaker at the annual Institute of Neuroscience conference, UCL |
| Year(s) Of Engagement Activity | 2016 |
| Description | DMT Mitochondrial Medicine: Developing New Treatments for Mitochondrial Disease |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Professional Practitioners |
| Results and Impact | invited speaker at the Wellcome Mitochondrial Medicine meeting at Hinxton Cambridge in May |
| Year(s) Of Engagement Activity | 2016 |
| URL | http://www.globaleventslist.elsevier.com/events/2016/05/mitochondrial-medicine-developng-new-treatme... |
| Description | DMT NIHR Summer Camp Ashbridge |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Postgraduate students |
| Results and Impact | Invited speaker at the NIHR Training Camp in Ashridgge |
| Year(s) Of Engagement Activity | 2016 |
| Description | DMT RCPH Liverpool 2016 |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Professional Practitioners |
| Results and Impact | Invited speaker at the annual RCPH conference in Liverpool |
| Year(s) Of Engagement Activity | 2016 |
| URL | http://www.rcpch.ac.uk/sites/default/files/user158/RCPCH-2016-annual-conference-programme.pdf |
| Description | Developing Antisense Oligomers as a Genetic Therapy for Duchenne Muscular Dystrophy. Distinguished lecture: Frontiers in Neuroscience, American Academy of Neurology Annual Meeting |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Professional Practitioners |
| Results and Impact | 22nd - 25th April - lecture on TIMP and MMP9 and miRNA and dystrophin, How AON entre muscle cells, Differences between dynamic in cardiac and skeletal muscle, Novel PPMO and Tryciclo DNA |
| Year(s) Of Engagement Activity | 2015 |
| Description | Dissemination articles for advocacy groups magazines |
| Form Of Engagement Activity | A magazine, newsletter or online publication |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Supporters |
| Results and Impact | Articles and interviews published in Action Duchenne and in Muscular Dystrophy Campaign UK Charities. The same for Muscular Dystrophy Association USA, and for MDA Australia, and for Association Francaise Myopathies. Patient queries, request of more infromation/ clarification. Contact with industry |
| Year(s) Of Engagement Activity | 2008,2009,2010,2011,2012 |
| Description | EMEA - TREAT-NMD meeting |
| Form Of Engagement Activity | Participation in an activity, workshop or similar |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Other audiences |
| Results and Impact | Meeting at EMEA organised by me (but hosted at EMEA) to discuss personalised medicine for DMD workshop report to published 20347306 Muntoni F (May, 2010) The development of antisense oligonucleotide therapies for Duchenne muscular dystrophy: report on a TREAT-NMD workshop hosted by the European Medicines Agency (EMA), on September 25th 2009., Neuromuscular disorders : NMD 20, 5, 355-62 |
| Year(s) Of Engagement Activity | 2009 |
| Description | IBM Patient Day |
| Form Of Engagement Activity | Participation in an open day or visit at my research institution |
| Part Of Official Scheme? | No |
| Type Of Presentation | Workshop Facilitator |
| Geographic Reach | National |
| Primary Audience | Participants in your research and patient groups |
| Results and Impact | 10/12 trial subjects attended the meeting. Preliminary trial results were reported. Feedback from patients was extremely positive. Future research directions were discussed. A representative of the "Myositis Support Group" also attended the meeting. Further engagement of patients on the IBM research conducted at the MRC Centre for Neuromuscular Diseases. |
| Year(s) Of Engagement Activity | 2012 |
| Description | Invited as speaker for ABN and PNS of whcih I am president elect and president |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Professional Practitioners |
| Results and Impact | Regularly invited as a speaker to international conferences to talk on CMT. ICNMD, PNS, ABN in Perth, Chile etc |
| Year(s) Of Engagement Activity | 2014,2015 |
| Description | IvIg Patient Information Day |
| Form Of Engagement Activity | Participation in an open day or visit at my research institution |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Participants in your research and patient groups |
| Results and Impact | The centre for neuromuscular diseases held the first IvIg patient information day on 29th March 2010 at Queen Square. Patients receiving IvIg and their families came from all over the UK to hear about different aspects of the treatment. Members of the multidisciplinary team at Queen Square were on hand to answer questions and explain the treatment and process. Patients also had the important opportunity to meet other families who were undergoing IvIg treatment. A second day is planned for 2011. |
| Year(s) Of Engagement Activity | 2010 |
| Description | Leading Edge |
| Form Of Engagement Activity | Participation in an open day or visit at my research institution |
| Part Of Official Scheme? | No |
| Geographic Reach | Local |
| Primary Audience | Schools |
| Results and Impact | Visits by groups of school children to our research laboratories as part of the 'Leading Edge' initiative to help students grasp basic scientific techniques and provide an insight into our research activities. |
| Year(s) Of Engagement Activity | 2017 |
| URL | https://blogs.ncl.ac.uk/leadingedge/ |
| Description | MDC Open Day |
| Form Of Engagement Activity | Participation in an open day or visit at my research institution |
| Part Of Official Scheme? | No |
| Type Of Presentation | Keynote/Invited Speaker |
| Geographic Reach | Regional |
| Primary Audience | Participants in your research and patient groups |
| Results and Impact | About 50 patients and carers attended a series of talks outlining the various activities ongoing in Newcastle. This was followed by tours of the labs and a chance to meet various members of the team. Feedback from patients, carers and fundraisers indicated that the day was well-received with many participants gaining substantial useful information. |
| Year(s) Of Engagement Activity | 2013 |
| Description | Mitochondrial Patient Days |
| Form Of Engagement Activity | Participation in an open day or visit at my research institution |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Participants in your research and patient groups |
| Results and Impact | The centre for neuromuscular diseases held the first mitochondrial patient education and information day on the 15th November 2008 at Queen Square. Mitochondrial patients and their families came from across the UK to hear about different aspects mitochondrial disease including diagnosis, treatment and care. Members of the entire multidisciplinary mitochondrial NCG team at Queen Square were on hand to answer questions and explain the diagnostic process, care and treatment through practical demonstrations and posters. Patients also had the important opportunity to meet other families who were affected by mitochondrial disease. The second mitochondrial patient organisation day took place on 25th November 2009. The University of Newcastle has also held two mitochondrial patient organisation days in 4th July 2009 and on 24th June 2010. A third mitochondrial patient day is planned for 2011. |
| Year(s) Of Engagement Activity | 2008,2009,2010,2011,2012 |
| Description | Modification of Splicing as a Therapeutic strategy for neuromuscular disorders. |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Professional Practitioners |
| Results and Impact | International Experimental Medicine Conference. NIHR Biomedical Research Centre at UCLH and Institute of neurology, London 13th October 2015. International Experimental Medicine Conference at which Francesco Muntoni lectured on Modification of splicing as a therapeutic strategy for neuromuscular disorders |
| Year(s) Of Engagement Activity | 2015 |
| Description | Molecular Biomarkers for Duchenne Muscular Atrophy. European Medicine Agency (EMA) meeting, London, 29th April 2015. |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | Regional |
| Primary Audience | Professional Practitioners |
| Results and Impact | Full day EMA meeting in London to discuss Biomarkers in DMD |
| Year(s) Of Engagement Activity | 2015 |
| Description | Myositis Support Group Annual Meeting & Conference |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Type Of Presentation | Keynote/Invited Speaker |
| Geographic Reach | National |
| Primary Audience | Participants in your research and patient groups |
| Results and Impact | The last Conference was in Southampton, 15th July 2012. The next Conference will be in Oxford, 21st July 2013. We are usually asked to give an update about IBM research. We also participate in "open discussion sessions" with patients. Our research group is regularly invited to attend the Myositis Support Group Annual Meeting & Conference. The "open discussion sessions" are particularly appreciated by patients. |
| Year(s) Of Engagement Activity | 2008,2009,2010,2011,2012,2013 |
| Description | NIH/FDA conference on antisense oligonucleotide therapies in neuromuscular disease, Washington September 27-28, 2010 |
| Form Of Engagement Activity | A formal working group, expert panel or dialogue |
| Part Of Official Scheme? | Yes |
| Geographic Reach | International |
| Primary Audience | Other audiences |
| Results and Impact | attended by representatives from FDA, NIH, industry, academics and parent organisation involved in Antisense Oligonucleotide Therapies in Neuromuscular Disorders Presented concluding remark lecture on 'Lessons on Development of AON drugs for Neuromuscular Disease'. |
| Year(s) Of Engagement Activity | 2010 |
| Description | Newcastle Mitochondrial Patient Day |
| Form Of Engagement Activity | Participation in an activity, workshop or similar |
| Part Of Official Scheme? | No |
| Type Of Presentation | Workshop Facilitator |
| Geographic Reach | Regional |
| Primary Audience | Participants in your research and patient groups |
| Results and Impact | Presentation to patients and their families/carers about diagnosis of mitochondrial disease, and the impact of new genetic technologies. Patient day to be repeated in 2014. |
| Year(s) Of Engagement Activity | 2013 |
| Description | Pathogenesis and therapeutic window in chromosome 5 spinal muscular atrophy. XVIII Scientific Convention, Telethon. Riva del Garda, Italy |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Professional Practitioners |
| Results and Impact | Lecture at 3 day conference, Telethon, Riva del Garda |
| Year(s) Of Engagement Activity | 2015 |
| Description | Patient Information Day 2016 |
| Form Of Engagement Activity | Participation in an activity, workshop or similar |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Patients, carers and/or patient groups |
| Results and Impact | Over 100 patients, families and their carers attended an all day meeting in October 2016. There were talks from professional practitioners, information stands and engagement activities as well as patient focus groups. There was also an informal evening event which offered patients and their families and carers an opportunity to interact with other people affected by mitochondrial disease. |
| Year(s) Of Engagement Activity | 2016 |
| URL | http://www.newcastle-mitochondria.com/patient-day-2016/ |
| Description | Patient Organisation Days |
| Form Of Engagement Activity | Participation in an open day or visit at my research institution |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Participants in your research and patient groups |
| Results and Impact | The aim of these meetings is to inform patient organisations about the activities of the centre, and ensure that they can work with the centre to achieve our goal of treating neuromuscular disease. The area leads give updates on education, imaging, the Biobank, animal models and clinical neuromuscular trials across the UK, followed by the opportunity for questions and discussion. Representatives from over ten patient organisations attended the meetings. Two patient organisations have part-funded one non-clinical three-year PhD studentship each as a result of these meetings (one CMT project, and one IBM project). |
| Year(s) Of Engagement Activity | 2008,2010,2011,2012 |
| Description | Radio interview on the use of animal models |
| Form Of Engagement Activity | A press release, press conference or response to a media enquiry/interview |
| Part Of Official Scheme? | No |
| Type Of Presentation | Keynote/Invited Speaker |
| Geographic Reach | National |
| Primary Audience | Public/other audiences |
| Results and Impact | Radio interview on the use of animal models. National outreach, television news audience. . |
| Year(s) Of Engagement Activity | 2013 |
| Description | Sci-Talk Writers and Scientists Collaboration |
| Form Of Engagement Activity | A formal working group, expert panel or dialogue |
| Part Of Official Scheme? | No |
| Type Of Presentation | Keynote/Invited Speaker |
| Geographic Reach | Regional |
| Primary Audience | Other academic audiences (collaborators, peers etc.) |
| Results and Impact | Several meetings between a group of artists/writers and members of the research team to explore potential collaborative efforts aimed at producing materials (books, videos and artwork) to engage younger audiences in science. Active collaboration between individuals resulting in a grant application to the Wellcome Trust for humanities funding. The grant was well-received, but did not get funded. |
| Year(s) Of Engagement Activity | 2013 |
| URL | http://www.scitalk.org.uk/ |
| Description | Scientific meetings |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Professional Practitioners |
| Results and Impact | Advances in treatment in neuromuscular disorder. British Neuropathology Society, UCL Institute of Child Health, London UK, 4th March 2015 |
| Year(s) Of Engagement Activity | 2015 |
| Description | Skipping Threapy for Duchenne Muscular Dystrophy. Paediatric American Association Meeting, San Diego, 25th-28th April 2015. |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Professional Practitioners |
| Results and Impact | there were approx.. 400 - 500 attendees. Our task as a group is to give an overview of the topic each has agreed to discuss where research has been, where it is going, and the potential impact for treatment of the pediatric population. |
| Year(s) Of Engagement Activity | 2015 |
| Description | Work Experience Placements for Year 12 Students |
| Form Of Engagement Activity | Participation in an open day or visit at my research institution |
| Part Of Official Scheme? | No |
| Type Of Presentation | Workshop Facilitator |
| Geographic Reach | Local |
| Primary Audience | Schools |
| Results and Impact | Three year 12 students, including one with a comparatively mild muscle disease, observed a series of experiments in the lab for a week. The students felt informed and expressed improved enthusiasm for biomedical science |
| Year(s) Of Engagement Activity | 2013 |
| Description | Young Science Writers Contest |
| Form Of Engagement Activity | Participation in an activity, workshop or similar |
| Part Of Official Scheme? | No |
| Type Of Presentation | Workshop Facilitator |
| Geographic Reach | Local |
| Primary Audience | Schools |
| Results and Impact | Over 150 pupils from local schools submitted short stories to the competition. The winners and runners up were invited to a formal prize-giving and they and their families invited to tour the labs. The students engaged effectively with the task and many felt that their interest in science had increased. |
| Year(s) Of Engagement Activity | 2013 |
| URL | https://blogs.ncl.ac.uk/igmengagement/ |
| Description | parent organisation meetings |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | Yes |
| Geographic Reach | National |
| Primary Audience | Public/other audiences |
| Results and Impact | presentations by various scientists and laypersons associated with DMD attendance of experts in the field of DMD |
| Year(s) Of Engagement Activity | 2006,2007,2008,2009,2010,2011 |