Three boys have made history as the youngest patients in the world to receive therapy for Duchenne Muscular Dystrophy (DMD) – a genetic condition in which there is no known cure.
Youngsters Lucas Beattie, Hunter Payne and Oliver Bunting, who are being treated at The Children’s Hospital at Westmead for DMD, will take part in a world-first international clinical trial for children aged under four.
A rare and life-limiting genetic condition affecting mostly boys, DMD causes rapid muscle weakness and results in almost all patients needing a wheelchair by 12-years old.
Just 10 boys under four worldwide will be involved in the trial, which will see patients followed over a period of at least five years to measure the therapy’s effectiveness.
Announced recently at The Children’s Hospital at Westmead, the trial will use a novel viral vector-based gene replacement therapy to target DMD at its root cause, replacing the faulty or mutated gene with a healthy version in a single-dose infusion.
Clinical Trials Medical Lead at The Children’s Hospital at Westmead Dr Michelle Lorentzos said that if the treatment is successful, it could allow the boys to continue walking past the age of 12.
“This is the only trial in the world treating boys under four years of age – we think by treating the boys earlier, we may be able to prevent much of the weakness and disability that has already occurred in older patients,” she said.
“If successful, this treatment could change the landscape of treatment for boys with DMD by offering a transformative intervention that may enable the boys to continue walking into adulthood and also improve their life expectancy.”
Current management of DMD involves high-dosed steroids, combined with physical therapy and allied health support. Although it can lead to some improvement, it’s not a longterm treatment and it can also be associated with difficult side effects.
Gene replacement therapy has already shown success in treating other genetic conditions, including spinal muscular atrophy (SMA), a condition causing rapidly progressive muscle weakness and early death in children.
NSW Premier Chris Minns, who visited the hospital to meet the boys and their families, said he was very proud that NSW will be a part of the world-first trial for the debilitating disease.
“This new gene therapy represents a beacon of hope for these three young boys and their families,” he said.
“The Sydney Children’s Hospitals Network (SCHN) has the expertise and capability to deliver world-leading paediatric clinical trials like this, which can lead to major clinical improvements for these children.”
The DMD clinical trial was enabled by the Kids Advanced Therapeutics Program at SCHN. The program is supported by Luminesce Alliance and Sydney Children’s Hospitals Foundation, which aims to deliver clinical trials of advanced therapeutics and to speed up translation into clinical care.
Ellie Busby is a news reporter for Western Sydney Publishing Group. A graduate of the University of Hertfordshire and Western Sydney University, she is a journalism Major. Ellie has worked with Universal Media, The Cova Project and for a range of other organisations. In 2024, Ellie was named Young Writer of the Year at the Mumbrella Publish Awards.