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Investing in gene therapy to advance treatments for muscle-wasting conditions
Principal Investigator
Dr Linda Popplewell, Prof. Francesco Muntoni, Prof. Volker Straub
Royal Holloway University of London, University College London, University of Newcastle
Official title
Universal Microdystrophin (MD) Gene Therapy Clinical Trial for DMD (UNITE-DMD)
5 years

Supporting the development of gene therapy for DMD

Muscular Dystrophy UK is a long-standing supporter of research into gene therapy for muscle-wasting conditions. For over 20 years, we’ve supported research to design, test and refine a microdystrophin AAV gene therapy for Duchenne muscular dystrophy. MDUK funding has always been at the core of this effort, having funded Prof George Dickson at Royal Holloway University of London for his work on exon skipping and gene therapy, along with the French charity AFM.

Gene therapy technology has advanced significantly over the years and is at the important and exciting stage of moving out of the lab and into clinical trials. A few years ago we were delighted to announce our support of the Universal Microdystrophin (MD) Gene Therapy Clinical Trial for DMD (UNITE-DMD) project to take this research forwards.

UNITE-DMD and its evolution

Until recently, MDUK was funding the clinical work in the UK of the UNITE-DMD study. We’re delighted that Genethon and their partners, Sarepta Therapeutics, have taken over the financial support for this work and are working with clinical research teams in France, in the UK and at other international sites to take the trial forward. See the latest update here.  We will continue to share updates when more information is available.

UNITE-DMD was an international collaboration working on gene therapy for DMD. There were two arms to the research:

  • continued optimisation and development of microdystrophin gene therapy products led by Dr Linda Popplewell (formerly Professor George Dickson) at Royal Holloway, University of London
  • to assess the safety of a gene therapy for Duchenne muscular dystrophy in a phase I/II clinical trial led by Professor Francesco Muntoni (chief investigator for the clinical trial element of the study) at the University College London Great Ormond Street Institute of Child Health and Professor Volker Straub at the John Walton Muscular Dystrophy Research Centre, Newcastle University

This clinical trial, which is now funded by Genethon, will assess the safety and efficacy of GNT 004, which uses an AAV- type viral vector to deliver microdystrophin, a shortened version of the dystrophin gene, to the cells of the body. The trial also includes a pre-inclusion study. This will follow the natural progression of the condition in boys with DMD and will help to inform the design of the trial.

Although this particular gene therapy will be designed to treat Duchenne muscular dystrophy, its development will refine and improve the technique generally. This will help in the development of gene therapies for other muscle-wasting conditions in the future.

The Genethon/Sarepta partnership means that, if the clinical trials are positive, there is a pathway to making the gene therapy available to patients (a process called commercialisation). Sarepta will work with NICE and the NHS to find a way to make the treatment available in the UK. While we’re excited by the evolution of this programme, as ever, we’re mindful that the work is still at the early phase of clinical trials. There is still a lot of safety and efficacy testing to be done, so it’s likely to be several years before potential commercialisation discussions take place.

How else has MDUK helped support this study?

MDUK continues to support the programme of work at Royal Holloway, led by Dr Linda Popplewell, to look at further refinement of microdystrophin and the AAV viral vector that is used to deliver the gene to cells.

In addition to supporting the development of the gene therapy, we have supported Prof Francesco Muntoni, Dr Adnan Manzur and their teams to establish the NorthStar Neuromuscular Database, which has been world-leading in collecting natural history data on boys with Duchenne muscular dystrophy for over a decade.

NorthStar data provides immense power because its clinical scale is the primary outcome measure for many clinical trials. Data from the ongoing natural history study, which links all paediatric UK centres, can also inform the design of clinical trials, including the one using the product GNT 004.

Thanks to support from our community, and Action Duchenne, MDUK has contributed in the region of £440k towards the UNITE-DMD study.  These funds have contributed to planning for the clinical trial as well as development of next generation gene therapy products.

For previous updates on the progress of the programme see:

Update 07/12/2020: Green Light for a Duchenne muscular dystrophy gene therapy in France

Update 09/12/2019: Update on the UNITE-DMD gene therapy programme

Update 14/12/18: Update on year one of the UNITE-DMD gene therapy programme 

Update 18/10/18: Update on the UNITE-DMD gene therapy programme 

Update 25/7/17: UNITE-DMD researchers demonstrate efficacy of Duchenne gene therapy

Update 30/6/17: Sarepta partners with Genethon, which strengthens UNITE-DMD’s prospects

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