The development of gene therapy for Niemann-Pick type C disease
Lead Research Organisation:
University College London
Department Name: School of Pharmacy
Abstract
Niemann-Pick type C disease (NPC) is a devastating and ultimately fatal genetic disorder that profoundly affects the brain and other organs of the body. A diagnosis is usually made in infancy/childhood where approximately half of the patients have liver abnormalities. Ten per cent of these patients will die from liver failure before six months of age. The symptoms of NPC patients that survive infancy are dominated by progressive degeneration of the brain with debilitating consequences and subsequent death, usually in the second decade of life. The genetic defect causing NPC in the vast majority of cases is caused by mutations in a gene called NPC1. This causes an accumulation of a number of complex substances such as cholesterol in cells of the body resulting in the symptoms seen the brain and visceral organs. Currently, there are no major specific disease modifying treatments for NPC patients and the need to develop effective life-saving therapies is overwhelming. Gene therapy involves the delivery of a functional copy of a gene into a cell in order to compensate for a defective version. In most cases, the genes are delivered into cells using viral vectors. These vectors are based on viruses that have been stripped of their harmful components, rendered safe and used as a vehicle to efficiently deliver therapeutic genes to cells of the body. Using this approach, gene therapy has demonstrated life-saving and life-changing results in clinical trials. The objective of this project is to develop gene therapy for treating NPC. We have made a viral vector that can efficiently deliver a therapeutic version of the NPC1 gene into cells. We propose using this vector in a pre-clinical proof-of-concept gene therapy study to rescue a mouse model of NPC that recapitulates the symptoms seen in human patients. The aims of this research project are: (1) To deliver the viral vector carrying the therapeutic NPC1 gene directly into the brain of new-born NPC mice to assess, using a range of analyses, whether this ameliorates of prevents the symptoms in the brain. Our preliminary data shows that this has significant therapeutic affect but requires further investigation; (2) To deliver the viral vector intravenously into the bloodstream of new-born NPC mice and assess the therapeutic affect. This viral vector is known to deliver genes to visceral organs and also cross into the brain following intravenous injection. This approach offers potential treatment for both the brain and visceral organs symptoms such as in the liver; (3) To simultaneously deliver the viral vector both directly to the brain and also intravenously to effectively increase the systemic dose and assess the therapeutic efficacy; (4) To deliver the viral vector using the most therapeutically efficacious route of administration (identified in aims 1, 2 and 3) to progressively older mice and assess the therapeutic effect. The purpose of this is to gauge how the gene therapy may perform in more symptomatic mice. This would mimic the potential clinical situation where diagnosis of NPC may be delayed and patients have developed symptoms. It is our hope that this study will provide proof-of-concept data supporting the clinical application of gene therapy as an effective treatment for NPC patients.
Technical Summary
NPC is a prematurely fatal autosomal recessive metabolic disorder. A diagnosis is usually made in infancy with approximately half the patients having increased liver bile acid levels. 10% of these patients will die of liver failure within six months of life and those that survive infancy will face progressive neurodegeneration leading to cerebellar ataxia, dysphagia, dementia and death usually in the second decade of life. Most NPC cases are caused by mutations in the NPC1 gene that encodes a late-endosome/lysosome transmembrane protein. The exact role of NPC1 is unknown although it probably has a role in trafficking of cholesterol and sphingolipids as these lipids accumulate in lysosomes of NPC patients and mice. There is currently no major specific disease modifying therapy for patients with NPC and there is an overwhelming need to develop more effective treatments. This project aims to conduct a proof-of-concept pre-clinical study to evaluate the efficacy of AAV9-mediated gene therapy to rescue a mouse model of NPC from neurological and visceral symptoms. We have constructed an AAV9 vector that carries the full-length therapeutic version of the NPC1 gene (AAV9-NPC1). Our preliminary data shows that intracerebroventricular injection of AAV9-NPC1 to newborn NPC1 mice provides significant therapeutic benefit and improves the weight and behaviour compared to uninjected NPC mice. However, more studies are required and our main objectives are to conduct survival, behavioural, biochemical, histological, neuropathology and imaging assessments to ascertain whether: (i) intracerebroventricular; (ii) intravenous or; (iii) a combination of intracerebroventricular and intravenous routes of administration prevent neurological and visceral symptoms and rescue the NPC mice from premature death. Finally, (iv) we will use the most therapeutically efficacious route of administration to treat progressively older and symptomatic NPC mice to evaluate the effect of age on outcome.
Planned Impact
Who will benefit from this research?
Our proposal will have broad-ranging impact on several groups. These include: academics (Academic Impact) and healthcare professionals associated with NPC research and treatment, respectively. Ultimately, this research is aimed at impact to the individual NPC patients but also the family members upon whom there is a significant emotional and financial burden (Economic/Societal Impact). The data produced from this proposal would be used to create interaction with clinicians and the growing number of pharmaceutical companies (e.g. GSK, Pfizer, Genzyme and others) concerned with the development of gene therapy for metabolic disorders.
How will they benefit from this research?
Academics/clinicians will gain an insight into whether AAV-mediated gene therapy can ameliorate or prevent the symptoms of the NPC mouse and extend the lifespan. This may also serve as a model to other neurodegenerative diseases similar to NPC involving defective membrane-bound proteins. This pre-clinical study will provide data for engagement with regulatory bodies, relevant pharmaceutical companies and downstream translation to the clinic for direct patient benefit. In addition, we will transfer technical and managerial skills to a new generation of research scientists, either directly (to postdoctoral RAs) or indirectly (to undergraduate or Ph.D. students involved in our research). This will also help to develop an international skill base through the subsequent mobility of these new scientists. Former Ph.D. students and postdoctoral scientists have had positive career trajectories by training in our labs and are now in posts at many other Universities (e.g. Cardiff University, University College Dublin, Dalhousie University and UCL) or industry/healthcare (e.g. Plasticell, National Health Service). Studies from FMP's laboratory led to the development of miglustat that is EMEA (2002) and FDA (2003) approved for treating Gaucher disease and EMA approved (2009) for use in NPC patients. Pre-clinical testing of an AAV vector by SNW's lab contributed to a recent successful clinical trial for haemophilia B. Furthermore, an application to the EMA sponsored by the UK Gauchers Association for orphan designation has been granted for work conducted by AAR and SNW on AAV-mediated gene therapy for neuronopathic Gaucher disease funded by a previous MRC grant (G1000709).
What will be done to ensure that they have the opportunity to benefit from this research?
In the short term (1-3 years), our research will benefit research scientists and clinicians via the presentation of new research findings at lectures in the UK and internationally to scientific and lay audiences, by publishing in internationally-recognised scientific journals, and by engaging with national/international press, television and radio. The past impact of our work on gene therapy, neurodegenerative disorders and NPC is evidenced by the large number of invited lectures that the AAR, FMP and SNW have given and publication of findings in high impact factor journals freely accessible through open access agreements. All applicants are actively involved in public engagement and activities involving patient/family associations. To ensure our findings reach a clinical audience, we are collaborating with Professor Gissen who is directly involved in the care of paediatric NPC patients and the implementation of clinical trials at Great Ormond Street Hospital and the associated UCL Institute for Child Health. AAR's location at UCL allows development of findings and realisation of impact via: i) UCL Advances - a Centre for Entrepreneurship and Business Interactions; ii) UCL Business PLC - a dedicated technology transfer company; iii) UCL Consultants Ltd that facilitates consultancy contracts; iv) UCL Partners - one of five accredited academic health science systems in the UK translating cutting-edge research and innovation into measurable health gains for patients.
Our proposal will have broad-ranging impact on several groups. These include: academics (Academic Impact) and healthcare professionals associated with NPC research and treatment, respectively. Ultimately, this research is aimed at impact to the individual NPC patients but also the family members upon whom there is a significant emotional and financial burden (Economic/Societal Impact). The data produced from this proposal would be used to create interaction with clinicians and the growing number of pharmaceutical companies (e.g. GSK, Pfizer, Genzyme and others) concerned with the development of gene therapy for metabolic disorders.
How will they benefit from this research?
Academics/clinicians will gain an insight into whether AAV-mediated gene therapy can ameliorate or prevent the symptoms of the NPC mouse and extend the lifespan. This may also serve as a model to other neurodegenerative diseases similar to NPC involving defective membrane-bound proteins. This pre-clinical study will provide data for engagement with regulatory bodies, relevant pharmaceutical companies and downstream translation to the clinic for direct patient benefit. In addition, we will transfer technical and managerial skills to a new generation of research scientists, either directly (to postdoctoral RAs) or indirectly (to undergraduate or Ph.D. students involved in our research). This will also help to develop an international skill base through the subsequent mobility of these new scientists. Former Ph.D. students and postdoctoral scientists have had positive career trajectories by training in our labs and are now in posts at many other Universities (e.g. Cardiff University, University College Dublin, Dalhousie University and UCL) or industry/healthcare (e.g. Plasticell, National Health Service). Studies from FMP's laboratory led to the development of miglustat that is EMEA (2002) and FDA (2003) approved for treating Gaucher disease and EMA approved (2009) for use in NPC patients. Pre-clinical testing of an AAV vector by SNW's lab contributed to a recent successful clinical trial for haemophilia B. Furthermore, an application to the EMA sponsored by the UK Gauchers Association for orphan designation has been granted for work conducted by AAR and SNW on AAV-mediated gene therapy for neuronopathic Gaucher disease funded by a previous MRC grant (G1000709).
What will be done to ensure that they have the opportunity to benefit from this research?
In the short term (1-3 years), our research will benefit research scientists and clinicians via the presentation of new research findings at lectures in the UK and internationally to scientific and lay audiences, by publishing in internationally-recognised scientific journals, and by engaging with national/international press, television and radio. The past impact of our work on gene therapy, neurodegenerative disorders and NPC is evidenced by the large number of invited lectures that the AAR, FMP and SNW have given and publication of findings in high impact factor journals freely accessible through open access agreements. All applicants are actively involved in public engagement and activities involving patient/family associations. To ensure our findings reach a clinical audience, we are collaborating with Professor Gissen who is directly involved in the care of paediatric NPC patients and the implementation of clinical trials at Great Ormond Street Hospital and the associated UCL Institute for Child Health. AAR's location at UCL allows development of findings and realisation of impact via: i) UCL Advances - a Centre for Entrepreneurship and Business Interactions; ii) UCL Business PLC - a dedicated technology transfer company; iii) UCL Consultants Ltd that facilitates consultancy contracts; iv) UCL Partners - one of five accredited academic health science systems in the UK translating cutting-edge research and innovation into measurable health gains for patients.
Publications
Plotegher N
(2020)
Impaired cellular bioenergetics caused by GBA1 depletion sensitizes neurons to calcium overload.
in Cell death and differentiation
Poupon-Bejuit L
(2020)
Neuroprotective Effects of Diabetes Drugs for the Treatment of Neonatal Hypoxia-Ischemia Encephalopathy.
in Frontiers in cellular neuroscience
Liu W
(2020)
Experimental gene therapies for the NCLs.
in Biochimica et biophysica acta. Molecular basis of disease
Kleine Holthaus SM
(2020)
Gene Therapy Targeting the Inner Retina Rescues the Retinal Phenotype in a Mouse Model of CLN3 Batten Disease.
in Human gene therapy
Karda R
(2020)
Generation of light-producing somatic-transgenic mice using adeno-associated virus vectors.
in Scientific reports
Seker Yilmaz B
(2020)
Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.
in International journal of molecular sciences
Rahim AA
(2020)
Gene therapy for global brain diseases: one small step for mice, one giant leap for humans.
in Brain : a journal of neurology
Ng Joanne
(2021)
Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism
in SCIENCE TRANSLATIONAL MEDICINE
Massaro G
(2021)
Gene Therapy for Lysosomal Storage Disorders: Ongoing Studies and Clinical Development.
in Biomolecules
Ng J
(2021)
Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism.
in Science translational medicine
Description | Participation in The Future of Medical Innovation in the UK: Opportunities and Challenges - House of Commons |
Geographic Reach | National |
Policy Influence Type | Contribution to a national consultation/review |
Description | MICA: Towards clinical trial readiness of gene therapy for Niemann-Pick disease type c |
Amount | £1,890,984 (GBP) |
Funding ID | MR/T044853/1 |
Organisation | Medical Research Council (MRC) |
Sector | Public |
Country | United Kingdom |
Start | 04/2021 |
End | 04/2022 |
Description | Collaboration with NIHR Great Ormond Street Hospital BRC |
Organisation | University College London |
Department | Institute of Child Health |
Country | United Kingdom |
Sector | Academic/University |
PI Contribution | The ongoing work on gene therapy projects has to led to an interest in setting up a gene therapy preclinical vector production facility (NeuroGTx Facility) at UCL. The money contributed by the NIHR GOSH BRC has paid for staff to run this facility. |
Collaborator Contribution | The contribution has been financial to pay for a salary (as described above). |
Impact | None yet. |
Start Year | 2021 |
Title | GENE THERAPY OF NIEMANN-PICK DISEASE TYPE C |
Description | The present invention relates to expression constructs and vectors for the treatment and/or prevention of diseases that are associated with a loss of NPC1 function, such as the lysosomal storage disorder Niemann-Pick type C (NPC) disease. |
IP Reference | WO2021181096 |
Protection | Patent / Patent application |
Year Protection Granted | 2021 |
Licensed | Yes |
Impact | Please refer to spinout company section |
Company Name | Bloomsbury Genetic Therapies |
Description | Bloomsbury Genetic Therapies utilises gene therapies to develop treatments for rare neurological and metabolic diseases. |
Year Established | 2021 |
Impact | The company has just formed but the first clinical trial will start imminently for one of the programmes and another of the programmes has just been granted orphan drug designation. |
Website | https://bloomsburygtx.com/ |
Description | A talk or presentation - Niemann-Pick UK patient Group |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | Presentation to the NIemann-Pick patient family members |
Year(s) Of Engagement Activity | 2019 |
URL | https://www.npuk.org/get-involved/annual-family-conference-interactive-workshop/ |
Description | Australian NP-C Meeting |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Presentation to professionals and patient-family organisation. Sparked Q&A. |
Year(s) Of Engagement Activity | 2023 |
Description | Fuenlabrada Spanish NPC Association |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | 50-100 participants that are either patients, parents and carers or healthcare professionals. Very good Q&A about progression of the project. |
Year(s) Of Engagement Activity | 2023 |
Description | Great Ormond Street Hospital DMD Meeting |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Meeting organised by Roche to inform practitioners about immune responses to gene therapy. Sparked excellent discussion. |
Year(s) Of Engagement Activity | 2023 |
Description | International Niemann-Pick Disease Association |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | Presentation to community of Australian NP-C clinicians and patient family organisation. Excellent Q&A afterwards. |
Year(s) Of Engagement Activity | 2023 |
Description | Invitation to Emily's Entourage Meeting in the USA |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Around 100 audience mix of scientists and practitioners from the cystic fibrosis community. This was part of a learnings exchange activity. Interest shown in learning about different approaches. |
Year(s) Of Engagement Activity | 2023 |
URL | https://www.emilysentourage.org |
Description | Invited seminar at the Open University |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | Local |
Primary Audience | Professional Practitioners |
Results and Impact | An invited seminar on gene therapy to academic department - faculty and students. |
Year(s) Of Engagement Activity | 2019 |
Description | Keynote presentation at Centre for Doctoral Training UCL-Nottingham |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Postgraduate students |
Results and Impact | Keynote presentation on gene therapy to postgraduate students at UCL and University of Nottingham |
Year(s) Of Engagement Activity | 2018 |
Description | Loire Valley Conference (International Niemann-Pick Disease Alliance) |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | A presentation to the scientific and clinical community on latest update of this project and what plans are for clinical translation. |
Year(s) Of Engagement Activity | 2022 |
URL | https://www.inpda.org/inpda-portal/research-clinical-trials/loire-valley-meeting/ |
Description | NPUK patient-family meeting |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | Presentation to patients, carers, families and health care professionals. Very good Q&A about direction of the work. |
Year(s) Of Engagement Activity | 2023 |
Description | Niemann-Pick UK Interactive Workshop and Family Meeting |
Form Of Engagement Activity | A formal working group, expert panel or dialogue |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | The activity was based around attending the Niemann-Pick UK annual meeting and interacting with patients, families and carers. Furthermore, clinical experts and representatives from industry were present. This gave us the opportunity over 2 days to describe our project and how it may be a powerful therapy in the future. It also allowed us to update the medical experts on our latest research findings and discuss the pathway required for clinical translation of the projects and what needs to be done to achieve this. |
Year(s) Of Engagement Activity | 2017 |
URL | http://www.npuk.org/npuk-annual-family-conference-interactive-workshop-2017/ |
Description | Niemann-Pick UK Patient Family Conference |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | A presentation to the clinicians, scientists and patients/families on the preclinical work and vision for moving towards clinical trials. |
Year(s) Of Engagement Activity | 2022 |
Description | Patient Group Workshop - Association Niemann-Pick de Fuenlabrada (Spain) |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | A presentation of the research to date to a Niemann-Pick Spanish Patient/Family organisation. |
Year(s) Of Engagement Activity | 2019 |
Description | Patient and family group presentation - ANPF, Spain |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | This was a presentation to the ANPF, a Niemann-Pick type C patient and family group based in Spain. The audience consisted of approximately 90 people and 10 healthcare professionals. The intended purpose was to present our research to them and explain how it works and the potential it may have for translation to the clinic one day. This resulted in a robust debate and Q&A session after the presentation. |
Year(s) Of Engagement Activity | 2017 |
URL | https://anpf.es/ii-conferencia-cientifico-familiar-asociacion-niemann-pick/ |
Description | Patient and family group presentation - Ara Parseghian Medical Research Foundation conference on Niemann Pick Type C Disease, USA |
Form Of Engagement Activity | A formal working group, expert panel or dialogue |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | The Ara Parseghian Medical Research Foundation conference on Niemann Pick Type C Disease is intended to bring together researchers from around the world to discuss their work and to engage with patients and family/carers. The project and data that we presented has potentially led to avenues of collaboration in the USA and also informed the patients/families of new therapies currently being developed. The presentation sparked a significant Q&A session and debate among the families and professional scientists and practitioners. |
Year(s) Of Engagement Activity | 2017 |
URL | http://parseghianfund.nd.edu |
Description | Patient group workshop - Fundacion Niemann-Pick de Espana |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | A presentation and debate at a workshop organised by a Spanish patient and family organisation. The presentation allowed us to describe what gene therapy is and the potential it has in treating diseases such as Niemann-Pick type C in the future. Many of the attendees did not have a firm understanding of knowledge of gene therapy and so they reported that the talk was well-received and very useful. |
Year(s) Of Engagement Activity | 2017 |
URL | http://www.fnp.es |
Description | Presentation at NCL2018 |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | A keynote presentation on the future of gene therapy. Q and A afterwards. |
Year(s) Of Engagement Activity | 2018 |
Description | Presentation at NCL2021 |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Presentation on large animal models and their importance in assessing new therapies. |
Year(s) Of Engagement Activity | 2021 |
URL | https://www.ucl.ac.uk/ncl-disease/clinicians/ncl-meetings |
Description | Presentation at UCL Great Ormond Street |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | Local |
Primary Audience | Professional Practitioners |
Results and Impact | Between 50-100 practitioners and scientists attended. Good conversation around translation to the clinic of technology for treating brain disorders. |
Year(s) Of Engagement Activity | 2023 |
Description | Presentation at the Association Niemann-Pick de Fuenlabrada |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | Presentation of data to families of patients with NPC. Discussion afterwards around clinical translation of the programme. |
Year(s) Of Engagement Activity | 2018 |
Description | Presentation at the Brians for Brain Meeting - Frankfurt |
Form Of Engagement Activity | A formal working group, expert panel or dialogue |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Presentation to clinical, scientific and industry reps in European task force B4B. |
Year(s) Of Engagement Activity | 2019 |
Description | Presentation at the British Society of Gene and Cell Therapy |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | A presentation was given to an audience consisting of gene therapy experts, medical practitioners, postgraduates students and undergraduate students. This was an update on the project and how it was progressing. |
Year(s) Of Engagement Activity | 2017 |
URL | https://www.bsgct.org/wp-content/uploads/2016/01/BSGCT2017-A4-Programme.pdf |
Description | Presentation at the European Brains for Brain Meeting - Germany |
Form Of Engagement Activity | A formal working group, expert panel or dialogue |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | A presentation to the Brains for Brain foundation in Frankfurt Germany. Attendees were primarily scientists, clinicians and representatives from industry. We delivered a presentation that highlighted the potential that gene therapy had for treating neurological diseases such as Niemann-Pick type C Disease. This sparked debate and discussion afterwards especially amongst the clinicians regarding the potential for clinical translation. |
Year(s) Of Engagement Activity | 2017 |
URL | http://www.brains4brain.eu |
Description | Presentation at the NPUK Patient/Family Meeting |
Form Of Engagement Activity | A formal working group, expert panel or dialogue |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | Presentation to the NPUK patient/family members group. There was also a dedicated session on gene therapy that led to a very interesting discussion. |
Year(s) Of Engagement Activity | 2020 |
Description | Presentation at the Niemann-Pick Family Association |
Form Of Engagement Activity | A formal working group, expert panel or dialogue |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | A presentation to an audience of clinicians, scientists, industry reps and family members. |
Year(s) Of Engagement Activity | 2018 |
Description | Presentation at the US National Niemann-Pick Disease Foundation |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | A presentation of the work funded by the award on pre-clinical studies and the path towards clinical translation. |
Year(s) Of Engagement Activity | 2022 |
URL | https://www.nnpdfconf.org |
Description | Presentation to Roche - Developing gene and peptide therapies for rare neurological disorders - a route to more common diseases |
Form Of Engagement Activity | A formal working group, expert panel or dialogue |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Industry/Business |
Results and Impact | An on-line presentation to Roche scientists and medical professionals. The intention was to make them aware of the utility of peptides and novel therapies and biologics in treating neurological diseases. This sparked an interesting Q&A session and discussion after the presentation. |
Year(s) Of Engagement Activity | 2020 |
Description | Presentation to SSCBio LTd |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Industry/Business |
Results and Impact | The intention of this presentation to describe the translational considerations when developing gene therapies and the preclinical data sets. This presentation was focussed on viral vector mediated gene therapy. |
Year(s) Of Engagement Activity | 2021 |
URL | https://www.sscbio.com |
Description | Presentation to the Metabolic Clinicians at Great Ormond Street Hospital |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | Local |
Primary Audience | Professional Practitioners |
Results and Impact | A presentation to the metabolic clinical team at Great Ormond Street Hospital on the work and progress so far. This generated a robust discussion amongst the clinical staff on how to move the study towards translation. |
Year(s) Of Engagement Activity | 2017 |
Description | Presentation to the NIHR Great Ormond Street Hospital BRC |
Form Of Engagement Activity | A formal working group, expert panel or dialogue |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Professional Practitioners |
Results and Impact | A presentation to the NIHR Great Ormond Street Hospital BRC on gene therapy activities and projects. |
Year(s) Of Engagement Activity | 2022 |
Description | Presentation to the NPC Loire Valley Gene Therapy Advisory Meeting |
Form Of Engagement Activity | A formal working group, expert panel or dialogue |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | A presentation on gene therapy to the NPC Loire Valley Gene Therapy Advisory Meeting (GAM). This reported on the state of the art and progress made on gene therapy projects. |
Year(s) Of Engagement Activity | 2021 |
Description | Seminar at Royal Holloway, University of London |
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 to talk about novel therapies for brain disorders at Royal Holloway University of London at a postgraduate student event. |
Year(s) Of Engagement Activity | 2023 |
Description | UCL-Chula Meeting (Thailand) |
Form Of Engagement Activity | A formal working group, expert panel or dialogue |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Presentation to Chulalongkorn University in Thailand about gene therapy technology. Hoping to establish longer-term relationship. |
Year(s) Of Engagement Activity | 2023 |
Description | YouTube video on Gene Therapy for Niemann-Pick type C - commissioned by Niemann-Pick UK |
Form Of Engagement Activity | Engagement focused website, blog or social media channel |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Public/other audiences |
Results and Impact | An interview on the development of gene therapy for Niemann-Pick type C disease commissioned by the NPUK patient and carer group that was posted as a YouTube video. The aim was to reach as wider audience as possible to explain what gene therapy is and how it could benefit patients suffering with Niemann-Pick Disease. This video, to date, has had close to 400 views. |
Year(s) Of Engagement Activity | 2017 |
URL | https://www.youtube.com/watch?v=P941wHlgcak |