First patient of gene therapy trial for Duchenne muscular dystrophy Published on: 25 October 2022 A boy has been treated in a gene therapy clinical trial for Duchenne muscular dystrophy (DMD) by experts at Â鶹´«Ã½. Four-year-old Charlie, from Aberdeen, was able to take part in the study in Tyneside thanks to the work of Â鶹´«Ã½, Â鶹´«Ã½ Hospitals and DMD charity, . 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. Charlie Pioneering trial The trial, called EMBARK, is studying the safety and efficacy of gene therapy, a technique that works by adding healthy new copies of the gene that is broken and causes DMD. The 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. Volker Straub, Director of the John Walton Muscular Dystrophy Research Centre, Professor of Neuromuscular Genetics at Â鶹´«Ã½ and honorary Clinical Geneticist Consultant at Â鶹´«Ã½ Hospitals, is leading the trial. Professor Straub said: “DMD is a devasting 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 Â鶹´«Ã½ and Â鶹´«Ã½ 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.” Â鶹´«Ã½ 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 University and the trust, specialising in early phase trials, usually in rare disease and conditions. 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 Â鶹´«Ã½ and funded by Duchenne UK. Moving science forwards 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!” Share: Latest News Volunteers help turn Whitley Bay beach into maths experiment Members of the public joined mathematicians from Â鶹´«Ã½ to create what organisers believe is the largest aperiodic tiling ever attempted on Whitley Bay beach. published on: 15 June 2026 Student leader drives misogyny law change A Â鶹´«Ã½ student leader has helped change the law after creating a petition to make misogyny a hate crime, which gathered over 114,000 signatures, prompting action in Parliament. published on: 12 June 2026 Freemen of Â鶹´«Ã½ see construction of new Castle Leazes The Freemen of Â鶹´«Ã½ and other key stakeholders have become an indelible part of new student accommodation at Â鶹´«Ã½â€™s Castle Leazes. published on: 12 June 2026 Facts and figures
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