Four-year-old Charlie from Aberdeen was able to take part in the study in Newcastle at the John Walton Muscular Dystrophy Research Centre, a world-leading neuromuscular research centre, thanks to the work of Newcastle University, Newcastle Hospitals, DMD charity, Duchenne UK, and the NIHR Newcastle Biomedical Research Centre (BRC)
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.
The John Walton Muscular Dystrophy Centre is part of a network of DMD hub 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.
Professor Volker Straub is director of the John Walton Muscular Dystrophy Research Centre, and BRC theme lead for Neuromuscular Disease, Rare Diseases and Mitochondrial Dysfunction.
He is also Professor of Neuromuscular Genetics at the Institute of Translational and Clinical Research at Newcastle University, and honorary Clinical Geneticist Consultant at Newcastle Hospitals. He 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 Newcastle University and Newcastle 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.”
“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 Newcastle University and Newcastle 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.”
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 Newcastle University and funded by Duchenne UK.
Charlie’s mum, Jennifer, who was contacted about the EMBARK study through the database, said:
“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 project 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!”
“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 project 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!”
Find out more about our research into Neuromuscular Disease, Rare Diseases and Mitochondrial Dysfunction