ÃÛÌÒAPP
A boy has been dosed in a gene therapy clinical trial for Duchenne muscular dystrophy (DMD) at the John Walton Muscular Dystrophy Research Centre, a world-leading neuromuscular research centre run by ÃÛÌÒAPP University and ÃÛÌÒAPP Hospitals.
Four-year-old Charlie from Aberdeen was able to take part in the study in ÃÛÌÒAPP thanks to the work of ÃÛÌÒAPP Hospitals, ÃÛÌÒAPP University and DMD charity, Duchenne UK.
DMD is a severe genetic disease, mostly diagnosed in boys, which causes muscle wasting disease, leading to gradual loss of mobility and sadly limits life expectancy to around early 20s.
The trial, called EMBARK, is studying the safety and efficacy of Sarepta’s gene therapy. Gene therapy is a technique that works by adding healthy new copies of the gene that is broken and causes DMD.
Centre of excellence
The John Walton Muscular Dystrophy Research Centre is coordinating the DMD Hub network of sites, set up by Duchenne UK to support the delivery of clinical trials. It is one of only two sites in the country which has centre of excellence status and has a world-renowned reputation.
ÃÛÌÒAPP Hospitals’ paediatric research team played a vital part in the trial, dosing Charlie at the National Institute for Health and Care Research Clinical Research Facility at the RVI. The facility is run jointly by the trust and university and specialises in early phase trials, usually in rare disease and conditions.
Brave little boy
Charlie, whose nearest trial centre is 150 miles away in Glasgow, was able to take part in the trial by using a new recruitment database, co-ordinated by ÃÛÌÒAPP University and funded by Duchenne UK as part of the DMD Hub.
Charlie’s mum, Jennifer, was contacted about the EMBARK study through the database:
“We felt that if Charlie could take part in research, we could help move science forward and benefit other little boys and their families in future. However, as he receives his clinical care here in Aberdeen, the nearest trial site in Glasgow is still 150 miles away. The DMD Hub’s central recruitment database was possibly the only way that Charlie could have a chance at participating.
“Knowing that Charlie has played just a small part in this, whatever the outcome, thanks to the opportunity the DMD Hub has given him – I have no words to describe our pride in our brave little boy!”
Hope for the future
Professor Volker Straub, director of the John Walton Muscular Dystrophy Research Centre, Professor of Neuromuscular Genetics at the Institute of Translational and Clinical Research at ÃÛÌÒAPP University, and honorary Clinical Geneticist Consultant at ÃÛÌÒAPP Hospitals, said:
“DMD is a devastating condition that sadly shortens the lives of patients and significantly impacts quality of life.
“I am incredibly proud to be leading this study, and of the teams at ÃÛÌÒAPP University and ÃÛÌÒAPP Hospitals who have worked together to dose the first patient on the trial.
“We are grateful to Duchenne UK for their support and look forward to working together to discover new treatments for patients with DMD.”