DMD is a rare and life-limiting genetic condition mostly affecting boys that causes rapid muscle weakness and results in almost all patients needing a wheelchair by 12 years of age.
There is no known cure.
Describing the trial as extremely exciting, Canterbury-based Save Our Sons Duchenne Foundation CEO Sandy Kervin said it was the culmination of everything they had been working for since launching in 2008.
“This is why we have been fundraising and advocating and we would like to thank everyone who donated money or time or helped spread the word,” she said.
“It’s because of you that this trial is now made possible.”
The trial will recruit 10 boys under four years of age worldwide, with patients followed over a period of at least five years to measure the therapy’s effectiveness, including the three in NSW who are being treated at the Children’s Hospital at Westmead.
The DMD clinical 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.
Current management of DMD involves high-dosed steroids, combined with physical therapy and allied health support but while it can lead to some improvement, it is also associated with difficult side effects and is not a long-term treatment.
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.
