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.

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.

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.

Organisations

Publications

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Aartsma-Rus A (2016) The importance of genetic diagnosis for Duchenne muscular dystrophy. in Journal of medical genetics

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Ahmed M (2016) Targeting protein homeostasis in sporadic inclusion body myositis. in Science translational medicine

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Akman G (2016) Pathological ribonuclease H1 causes R-loop depletion and aberrant DNA segregation in mitochondria. in Proceedings of the National Academy of Sciences of the United States of America

 
Guideline Title Guidelines for clinical trials in Duchenne Muscular Dystrophy
Description EMA meetings
Geographic Reach Europe 
Policy Influence Type Citation in clinical guidelines
 
Description Gave evidence to House of Lords on Mitochondrial Donation
Geographic Reach National 
Policy Influence Type Participation in a national consultation
Impact Led to change in UK law to permit the mitochondrial donation technique to be offered to women suffering from mitochondrial disease to prevent transmission of the disease to their children.
 
Description HFEA public consultation
Geographic Reach Multiple continents/international 
Policy Influence Type Participation in a national consultation
 
Description Human Fertilisation and Embryology Authority Draft Consultation
Geographic Reach National 
Policy Influence Type Participation in a national consultation
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 Roundup 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 proofofprinciple experiments in macaques involved closelyrelated 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 LovellBadge, 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/mitochondrialdna/ http://www.bbc.co.uk/news/health24158049 New Scientist (quotes Doug Turnbull) http://www.newscientist.com/article/dn24230warningsoundedoverthreeparentivfsafety. html#.UjwUrz82nm4 Times (quotes Robin LovellBadge and Doug Turnbull) http://www.thetimes.co.uk/tto/health/news/article3874038.ece 3 Science AAAS (quotes Robin LovellBadge) http://news.sciencemag.org/biology/2013/09/newcontroversyoverexperimentalivfmethod Clips BBC News (quotes Robin LovellBadge and Doug Turnbull) http://www.bbc.co.uk/news/health24158049 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 Academic/University
Country United Kingdom
Start 01/2016 
End 07/2016
 
Description ARUK
Amount £160,000 (GBP)
Organisation Versus Arthritis 
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 Academic/University
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 Academic/University
Country United Kingdom
Start 03/2015 
End 03/2017
 
Description Brain Research Trust/Sobell Foundation Award
Amount £175,000 (GBP)
Organisation Brain Research Trust (BRT) 
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 Academic/University
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 Academic/University
Country United Kingdom
Start  
 
Description Centre Grant Extension - Centre for Brain Ageing and Vitality
Amount £342,971 (GBP)
Organisation Medical Research Council (MRC) 
Sector Academic/University
Country United Kingdom
Start  
 
Description Charities MYO-SEQ
Amount £19,444 (GBP)
Organisation LGMD2i Research Fund 
Sector Charity/Non Profit
Country Unknown
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 Academic/University
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 Academic/University
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 Academic/University
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 
Start 06/2018 
End 05/2021
 
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 Academic/University
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 Academic/University
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 Academic/University
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 Public
Country United Kingdom
Start  
 
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 INC research patient registry enquiry
Amount £4,472 (GBP)
Organisation INC Research 
Sector Private
Country Unknown
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 Unknown
Start 09/2015 
End 02/2017
 
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 
Start 10/2016 
End 09/2018
 
Description MRC Clinical Training Fellowship
Amount £212,000 (GBP)
Organisation Medical Research Council (MRC) 
Sector Academic/University
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 Academic/University
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 Academic/University
Country United Kingdom
Start 06/2019 
End 05/2024
 
Description MRC research grant
Amount £464,000 (GBP)
Organisation Medical Research Council (MRC) 
Sector Academic/University
Country United Kingdom
Start 11/2014 
End 09/2017
 
Description MYOPROSP Consortium
Amount £66,301 (GBP)
Organisation Medical Research Council (MRC) 
Sector Academic/University
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 £282,714 (GBP)
Organisation Great Ormond Street Hospital (GOSH) 
Department NIHR Great Ormond Street Biomedical Research Centre
Sector Public
Country United Kingdom
Start 02/2013 
End 01/2018
 
Description Matched Funding
Amount £493,106 (GBP)
Organisation National Institute for Health Research 
Department UCLH/UCL Biomedical Research Centre
Sector Public
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 Public
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 Public
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 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 Cancer Institute (NCI) 
Sector Public
Country United States
Start 08/2015 
End 07/2019
 
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 Academic/University
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 Academic/University
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 Public
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 Disease Theme
Amount £398,514 (GBP)
Organisation National Institute for Health Research 
Department UCLH/UCL Biomedical Research Centre
Sector Public
Country United Kingdom
Start 06/2017 
End 05/2021
 
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 Academic/University
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 Academic/University
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 Academic/University
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 United Kingdom
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 £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 £363,060 (GBP)
Organisation National Institute for Health Research 
Sector Public
Country United Kingdom
Start 09/2014 
End 08/2017
 
Description Post-Doctoral Fellowship
Amount £143,000 (GBP)
Organisation GlaxoSmithKline (GSK) 
Sector Private
Country Global
Start  
 
Description Post-Doctoral Fellowship
Amount £145,000 (GBP)
Organisation Engineering and Physical Sciences Research Council (EPSRC) 
Sector Academic/University
Country United Kingdom
Start  
 
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 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 Grant
Amount £200,243 (GBP)
Organisation Action Medical Research 
Sector Charity/Non Profit
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 £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 £730,067 (GBP)
Organisation European Commission 
Sector Public
Country European Union (EU)
Start  
 
Description Project Grant
Amount £99,360 (GBP)
Organisation National Institute for Health Research 
Department UCLH/UCL Biomedical Research Centre
Sector Public
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 £7,000 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start  
 
Description Project Grant
Amount £891,000 (GBP)
Organisation Medical Research Council (MRC) 
Sector Academic/University
Country United Kingdom
Start  
 
Description Project Grant
Amount £464,146 (GBP)
Organisation Medical Research Council (MRC) 
Sector Academic/University
Country United Kingdom
Start 12/2014 
End 11/2017
 
Description Project Grant
Amount £8,066 (GBP)
Organisation British Heart Foundation (BHF) 
Sector Charity/Non Profit
Country United Kingdom
Start  
 
Description Project Grant
Amount £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 £50,836 (GBP)
Organisation Genethon 
Sector Public
Country France
Start  
 
Description Project Grant
Amount £158,860 (GBP)
Organisation National Institute for Health Research 
Sector Public
Country United Kingdom
Start  
 
Description Project Grant
Amount £466,205 (GBP)
Funding ID MR/K018523/1 
Organisation Medical Research Council (MRC) 
Sector Academic/University
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 £112,665 (GBP)
Organisation e-Therapeutics 
Sector Private
Country United Kingdom
Start  
 
Description Project Grant
Amount £72,666 (GBP)
Organisation European Cooperation in Science and Technology (COST) 
Sector Public
Country European Union (EU)
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 £96,360 (GBP)
Organisation National Institute for Health Research 
Department UCLH/UCL Biomedical Research Centre
Sector Public
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 £264,000 (GBP)
Organisation SMA Trust 
Sector Charity/Non Profit
Country United Kingdom
Start  
 
Description Project Grant
Amount £9,019 (GBP)
Organisation European Commission 
Sector Public
Country European Union (EU)
Start  
 
Description Project Grant
Amount £174,944 (GBP)
Organisation Muscular Dystrophy UK 
Sector Charity/Non Profit
Country United Kingdom
Start  
 
Description Project Grant
Amount £40,000 (GBP)
Organisation National Institute for Health Research 
Department UCLH/UCL Biomedical Research Centre
Sector Public
Country United Kingdom
Start  
 
Description Project Grant
Amount £1,008,000 (GBP)
Organisation Medical Research Council (MRC) 
Sector Academic/University
Country United Kingdom
Start  
 
Description Project Grant
Amount £100,000 (GBP)
Organisation Brain Research Trust (BRT) 
Sector Charity/Non Profit
Country United Kingdom
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 £60,000 (GBP)
Organisation Muscular Dystrophy UK 
Sector Charity/Non Profit
Country United Kingdom
Start 06/2013 
End 06/2015
 
Description Project Grant
Amount £44,000 (GBP)
Organisation The Lily Foundation 
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 £59,134 (GBP)
Organisation Muscular Dystrophy UK 
Sector Charity/Non Profit
Country United Kingdom
Start  
 
Description Project Grant
Amount £994,155 (GBP)
Organisation Medical Research Council (MRC) 
Sector Academic/University
Country United Kingdom
Start  
 
Description Project Grant
Amount £4,194,451 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start  
 
Description Project Grant
Amount £70,000 (GBP)
Organisation Eli Lilly & Company Ltd 
Sector Private
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 Public
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 Academic/University
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 Academic/University
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 £200,010 (GBP)
Organisation Newcastle upon Tyne Hospitals NHS Foundation Trust 
Sector Public
Country United Kingdom
Start  
 
Description RCF Award
Amount £49,000 (GBP)
Organisation National Institute for Health Research 
Sector Public
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 
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 Academic/University
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 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 Unknown
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 Academic/University
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 European Union (EU)
Start  
 
Description Starter Grant - consolidator
Amount £1,139,280 (GBP)
Organisation European Research Council (ERC) 
Sector Public
Country European Union (EU)
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 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 Unknown
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 Ultragenyx MYO-SEQ
Amount £199,949 (GBP)
Organisation Ultragenyx Pharmaceutical Inc 
Sector Private
Country Unknown
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 Anne Dell Collaboration 
Organisation Imperial College London
Country United Kingdom 
Sector Academic/University 
PI Contribution Provision of myoblast cells knocked down for Gfpt1
Collaborator Contribution Analysis of glyco-epitopes by proteomics
Impact None to datge
Start Year 2012
 
Description Annemieke Artsma-Rus Visiting Professorship 
Organisation Leiden University Medical Center
Department Centre for Human and Clinical Genetics
Country Netherlands 
Sector Academic/University 
PI Contribution We provide working space and collaborative projects for Prof. Aartsma-Rus whi visits Newcastle regularly.
Collaborator Contribution Prof. Aartsma-Rus is making a concerted contribution to the networking and scientific activities of the wider team
Impact Improved integration with networks and international collaborations such as the TREAT-NMD Alliance
Start Year 2012
 
Description BBSRC Case Studentship: targeting axonal transport deficits 
Organisation GlaxoSmithKline (GSK)
Country Global 
Sector Private 
PI Contribution Developing high throughput assay for testing agents that modify axonal transport, and in vivo testing of efficacy.
Collaborator Contribution Developing high throughput assay for testing agents that modify axonal transport.
Impact None to date.
Start Year 2011
 
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 Cell therapy of Duchenne Muscular Dystrophy by intra-arterial delivery of HLA-identical allogeneic mesoangioblasts 
Organisation San Raffaele del Monte Tabor Foundation
Country Italy 
Sector Hospitals 
PI Contribution Quantitative analysis of patient biopsies before and after stem cell transplantation in this phase I/II clinical trial.
Collaborator Contribution Clinical trial PI also a PI at the MRC Centre for Neuromuscular Diseases.
Impact .
Start Year 2011
 
Description David Beeson Collaboration 
Organisation University of Oxford
Department Weatherall Institute of Molecular Medicine (WIMM)
Country United Kingdom 
Sector Public 
PI Contribution Provision of samples and data for analysis of CMS
Collaborator Contribution Data analysis and sharing
Impact Joint publication under consideration
 
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 Dystrophic Pig Collaboration 
Organisation Ludwig Maximilian University of Munich (LMU Munich)
Department Gene Center Munich
Country Germany 
Sector Academic/University 
PI Contribution We have provided advice on the project from the outset as well as some material support in the analysis phase.
Collaborator Contribution Prof. Eckard Wolf has developed the pig breeding project and maintains the existing stocks. The collaboration is now moving forward to defining the next series of experiments to utilise the pig model.
Impact Publication (Pubmed ID: 23784375)
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 Functional characterisation of novel mitochondrial disease genes 
Organisation Baylor College of Medicine
Country United States 
Sector Hospitals 
PI Contribution Functional characterisation of novel mitochondrial disease genes.
Collaborator Contribution Exome sequencing families with mitochondrial disorders.
Impact PMID 23993193
Start Year 2011
 
Description Functional characterisation of novel mitochondrial disease genes 
Organisation Helmholtz Zentrum München
Country Germany 
Sector Public 
PI Contribution Exome sequencing families with mitochondrial disorders
Collaborator Contribution Identification of novel disease genes associated with human complex I deficiency
Impact PMID: 23849775
Start Year 2011
 
Description Functional characterisation of novel mitochondrial disease genes 
Organisation Medical Research Council (MRC)
Country United Kingdom 
Sector Academic/University 
PI Contribution Investigation of the role of FBXL4 in mitochondrial function
Collaborator Contribution Identification and characterisation of mitochondrial disease genes
Impact PMID: 23929671
Start Year 2012
 
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 Public 
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 Public 
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 Markus Ruegg Collaboration 
Organisation University of Basel
Department Biozentrum Basel
Country Switzerland 
Sector Academic/University 
PI Contribution Exchange of biomaterials (plasmids and constructs)
Collaborator Contribution Provision of experise and materials
Impact None to date
Start Year 2012
 
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 Public 
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 University Medical Center
Country Netherlands 
Sector Academic/University 
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 Paediatric mitochondrial disease 
Organisation University Duisburg-Essen
Country Germany 
Sector Academic/University 
PI Contribution Analysis of samples to identify the cause of combined respiratory chain deficiency.
Collaborator Contribution Supply of samples from paediatric patients with mitochondrial disease.
Impact Two papers: PMID 23430795 PMID 23814040
Start Year 2012
 
Description Preclinical testing in SOD1 mice 
Organisation Janus Developments
Country Spain 
Sector Private 
PI Contribution Undertaking a preclinical trial of a compound in a mouse model of ALS.
Collaborator Contribution Development strategy.
Impact None yet.
Start Year 2012
 
Description RDCRC Inherited Neuropathies Consortium 
Organisation National Institutes of Health (NIH)
Country United States 
Sector Public 
PI Contribution Provision of patient data, Fellowship training scheme. PI is Co-Director of the consortium.
Collaborator Contribution International consortium for research into inherited neuropathies.
Impact Two clinical research fellows in the UK have completed the training scheme. One clinical research fellow is currently on the scheme. 21 research fellows funded by non-NIHR sources have completed/are undergoing the programme.
Start Year 2009
 
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 Charity/Non Profit 
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 Charity/Non Profit 
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 Public 
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 TREAT-NMD Alliance 
Organisation European Commission
Country European Union (EU) 
Sector Public 
PI Contribution Following the success of the TREAT-NMD network of excellence, the TREAT-NMD Alliance has been formed as the continuing, sustainable network supporting translational research in neuromuscular diseases internationally. We have been tasked with coordination of the network.
Collaborator Contribution Contribution to the governance and activities of the network.
Impact Meetings and conferences. Collaborative preparation of papers and briefing documents. Integration with patient organisations.
Start Year 2012
 
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 Public 
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
 
Description tRNA Modification 
Organisation National Institutes of Health (NIH)
Country United States 
Sector Public 
PI Contribution Functional characterisation of novel mitochondrial disease proteins involved in tRNA modification
Collaborator Contribution Functional characterisation of tRNA modification in patient cells and tissues
Impact Collaborative manuscript submitted (PLoS Genetics)
Start Year 2011
 
Title 2015. Nicolas levy et al.. 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 2015
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
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
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
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 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 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 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
 
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