World first trial for kids with Duchenne Muscular Dystrophy

World-first trial for children with Duchenne Muscular Dystrophy

19 July, 2023

Sydney, Australia - Three NSW boys have become the first in the world to receive gene therapy for Duchenne Muscular Dystrophy as part of an international clinical trial for children under four years of age.

Duchenne muscular dystrophy (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 cure, with most dying from the condition in their 20s or 30s.

The DMD clinical trial will use a novel viral vector-based gene replacement therapy, fordadistrogene movaparvovec, to target DMD at its root cause, replacing the faulty or mutated gene with a healthy, functioning version in a one-time, single dose infusion.

NSW Health Minister Ryan Park said Sydney Children’s Hospitals Network is the first site worldwide to administer the gene therapy to patients.

“The Sydney Children’s Hospitals Network has the expertise and capability to deliver world-leading paediatric clinical trials which can lead to major clinical improvements and result in substantial gains for children,” Mr Park said.

Dr Michelle Lorentzos, Clinical Trials Medical Lead at The Children’s Hospital at Westmead (CHW), said the trial is hoped to show early intervention can change the clinical trajectory for boys with DMD.

“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,” Dr Lorentzos 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 but while it can lead to some improvement, it is also associated with difficult side effects and is not a long-term treatment. 

The trial will recruit a total of 10 boys worldwide, with patients followed over a period of at least five years to measure the therapy’s effectiveness.

Clinical Associate Professor Kristi Jones, Principal Investigator on the trial and Staff Specialist in Clinical Genetics at CHW, said the trial is an incredible achievement for the team.

“The fact we have been able to run this trial, and are the first site in the world to do so, is a remarkable achievement and the result of many years of hard work,” A/Prof Jones said.

“This wasn’t something we would have been able to achieve on our own and we give our sincere thanks to our supporters, like Save Our Son Duchenne Foundation, who have supported our teams and helped fund our research from the beginning. Their advocacy has been instrumental in making this trial possible.”

Gene replacement therapy has already shown its success in treating other genetic conditions, including spinal muscular atrophy (SMA), a condition causing rapidly progressive muscle weakness and early death in children.

As the equal lead recruitment site globally and the sole Australian recruitment site, Sydney Children’s Hospitals Network played a pivotal role in the trial, which led to the first market-approved adeno-associated virus-based gene therapy drug for paediatric patients.

“We now know early administration of gene replacement therapy can prevent the onset of SMA symptoms. Gene replacement therapy has also been used successfully in inherited retinopathy and we are certainly hoping this trial follows in the same footsteps,” Dr Lorentzos said.

The DMD clinical trial was enabled by the Kids Advanced Therapeutics Program at SCHN, a program kindly 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.  

“Being at the forefront of these trials means we can play a part in finding new and emerging therapies for diseases like DMD, where current treatments are very limited, and offer these to the patients we are treating today.”



Bess Graham | Premier | 0427 779 257

Jessica Kidd | Minister Park | 0472 837 076

Sarah Palmer | Sydney Children’s Hospitals Network | 0428 112 023

Last updated Wednesday 25th October 2023