Pfizer’s gene therapy offers hope to children battling rare disease

Pharma News: In a ground-breaking international clinical trial, children from New South Wales (NSW) have become the youngest patients in the world to receive Pfizer’s cutting-edge gene therapy, fordadistrogene movaparvovec, for Duchenne Muscular Dystrophy (DMD). This rare and life-limiting genetic condition, predominantly affecting boys, causes rapid muscle weakness, leaving most patients dependent on wheelchairs by the age of 12.

DMD is known for placing a daunting timer on affected children’s lives, as they progressively lose physical functioning and face an uncertain future. Despite significant advances in treatment that have extended life expectancy and improved function in those born with Duchenne, most children with the disease don’t live past their 30th birthday. However, hope now shines brighter with this cutting-edge gene therapy in a single-dose infusion.

Over the course of at least five years, researchers will closely monitor the patients’ progress and measure the effectiveness of the gene therapy. Three brave boys from NSW have joined the ranks of those enrolled in the trial and are receiving treatment at The Children’s Hospital at Westmead.

Duchenne Muscular Dystrophy not only inflicts a physical toll but also imposes significant lifetime health and social care costs. According to estimates from the McKell Institute and Save Our Sons Duchenne Foundation, these costs can amount to a staggering $2.25 million for a child who lives until their mid-thirties. Additionally, informal care costs up to $630,000 due to reduced female workforce participation. In this context, the potential benefits of gene therapy must be considered in light of these lifelong costs.

Currently, the management of DMD relies on high-dose steroids, physical therapy, and allied health support. While this approach may offer some improvement, it also comes with challenging side effects and is not a sustainable long-term solution.

Gene replacement therapy has demonstrated impressive success in treating other genetic conditions, such as spinal muscular atrophy (SMA), where it has reversed the progression of muscle weakness and early death in affected children.

NSW Premier Chris Minns has expressed pride in being part of this trial. “This new gene therapy represents a beacon of hope for these three young boys and their families. The Sydney Children’s Hospitals Network has the expertise and capability to deliver world-leading paediatric clinical trials like this, which can lead to major clinical improvements for these children,” he said.

NSW Health Minister Ryan Park added “It’s an incredible achievement for NSW and The Children’s Hospital at Westmead to be leading this trial and showcasing our expertise in gene therapy on the world stage.”

Dr Michelle Lorentzos, Clinical Trials Medical Lead at The Children’s Hospital at Westmead, highlighted the significance of treating boys at an early age. By intervening sooner, the hope is to prevent much of the debilitating weakness and disability that older patients already face.

“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,” commented Dr Lorentzos.

Clinical Associate Professor Kristi Jones, Principal Investigator on the trial and Staff Specialist in Clinical Genetics at The Children’s Hospital at Westmead said “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.

“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 research and teams from the beginning – their advocacy has been instrumental in making this trial possible.”

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