Advocates unite at Parliament House to propel innovative treatments for rare diseases

Pharma News: In a bold step towards addressing the pressing issue of rare disease treatment, prominent organisations and influencers converged yesterday at Australia’s Parliament House.

The event We don’t choose our genes, hosted by Dr Michael Freelander MP, Chair of Standing Committee on Health, Aged Care and Sport, welcomed key stakeholders including Save Our Sons, the Duchenne Foundation, the Spinal Muscular Atrophy Association of Australia, the Genetic Support Network of Victoria, Humanise Health, and Pfizer. Together, they embarked on a collective journey to propel advocacy and education to the forefront, aiming to ensure widespread access to pioneering therapies for Duchenne Muscular Dystrophy (DMD).

Amid a backdrop of shared determination, Genetic Support Network of Victoria eloquently articulated, “We do not choose our genes. Rare genetic diseases can be debilitating, progressive, and life-threatening. They often begin in childhood and have limited or no disease-modifying treatment options. People living with rare genetic diseases cannot wait. We must act now to help ensure health systems and payers are prepared and primed to readily deliver gene therapies to the people who can benefit from them. We need new ways of defining value and affordability for gene therapies, so people living with rare genetic diseases have timely access to these new medicines.”

In an Australian-first, 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 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.

At present, the management of DMD hinges on a regimen of high-dose steroids, physical therapy, and allied health support. Though this approach offers incremental improvements, the journey is fraught with challenging side effects and lacks long-term viability.

Duchenne Muscular Dystrophy exacts not only a physical toll but also engenders considerable lifetime health and social care expenditures. According to estimates put forth by the reputable McKell Institute and the Save Our Sons Duchenne Foundation, the financial burden can balloon to an astonishing $2.25 million for a child surviving until their mid-thirties. Additionally, informal caregiving expenses can skyrocket 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.

The event attendees extended heartfelt gratitude to clinicians, MPs, tireless advocates, families, and the unwavering support of Mark Butler MP, Minister for Health and Aged Care, and Anika Wells MP, Minister for Aged Care Minister for Sport.

Krystal Barter, Founder of Humanise Health, commented “Above all, our heartfelt appreciation goes to the George Stalley and his dedicated supporters – his mother Kathy, father Glenn, and little sister Eve. They show us the realities of Duchenne and the future they so desperately want to change for themselves and others. It’s days like this that reminds me that I am exactly where I need to be – creating change for the community and healthcare.”

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