FSHD Global Research Foundation was established in 2007 by Bill Moss AO, a well-known Australian businessman and philanthropist who lives with a progressive genetic muscle-wasting disease, Facioscapulohumeral Dystrophy (FSHD). FSHD is caused by a genetic defect that allows toxic protein DUX4 to attack muscle cells, causing patients to slowly lose the ability to walk, talk, smile or even eat. Affecting every aspect of life and referred to as a “slow death disease”, FSHD is debilitating and relentless. Despite FSHD being the most common form of Muscular Dystrophy in adults and children, little was known about the disease when Bill was diagnosed, so he created FSHD Global to change that, with a core mission to find treatments and ultimately a cure for FSHD. 

To address the lack of medical funding and awareness of FSHD, the Foundation has funded 58 medical research grants totalling more than $12M and driven global scientific development to unlock understanding of the disease. Through transparency, accountability, good governance, innovation and pure passion, the aim is to achieve results as quickly as possible. 

Thanks to a total investment of over $20M into the cause, through grant funding and the operations of the Foundation, an enormous global effort against this disease was inspired and through collaboration, strategic global investment and the right mix of cutting-edge research and innovation, the field has reached a point where FSHD disease mechanisms are better understood, and treatments are on the horizon. 

Clinical trials for prospective drug therapies to slow the progression of FSHD commenced in America, Europe and the UK in 2021. Australia was excluded from clinical trial participation due to limitations in their diagnostics and shortfalls in captured patient data. In response to this, FSHD Global adapted its constitution to expand from a funding body to a medical and patient advocacy organisation and developed a strategy to target clinical trial readiness. The Foundation aims to ensure that Australians with FSHD can partake in clinical trials, access future treatments and, one day, find a cure. 

The Foundation identified the systemic barriers to clinical trials and created a roadmap to be implemented via the National FSHD Clinical Trial Readiness Program, comprising three key components: 

• Accessible, affordable and reliable diagnostics 
• Fully characterised patient disease data 
• National connectivity and infrastructure

All program components have been concurrently uplifted, enabling an express movement towards the clinic for Australia. The Foundation provided a $500k investment in gold class current diagnostic technology through a three-month fundraising campaign, reducing time and costs by half for patients connected through the existing medical system. The Foundation also lobbied for a Medicare code for the existing diagnostic technology reducing out-of-pocket costs for patients. 

The substantial benefit, though, and the innovative solution that drove patient numbers to clinical trial qualifying levels, opening up opportunities to Australia, was the development of an Australian first medical portal connecting patients to a free-of-charge saliva screening tool used in the USA as a research test. FSHD Global enabled fast-tracked its rollout in Australia through a custom designed HIPPA compliant Medical Education Portal, reducing two barriers to the clinics by providing accessible and affordable testing and capturing patient data in a disease registry. Over the past two years, the saliva screening program has enabled the identification and registration of 220 FSHD patients, growing the national patient registry numbers by over 11 times in total patient numbers. 

FSHD Global has also established a National FSHD Diagnostic Network, connecting institutions and clinicians. This network will be vital to communicate regarding clinical trial opportunities, promote disease awareness, and collaborate on new and emerging technologies and therapeutic approaches. 

Through the clinical trial readiness program, FSHD Global has prevented Australian patients from being excluded from clinical trials and future treatments, as well as building a fit-for-purpose diagnostic and clinical trial framework that could be applied to any disease and benefit an exponential number of Australians. Australia has enough fully characterised patients to attract industry interest and establish sites to host clinical trials. Three clinical trial sites in Australia are under investigation for establishment in 2023/24, solely thanks to the advocacy and funding from FSHD Global Research Foundation. The impact of this program will be life-changing to the estimated 3000 Australians who live with FSHD, all future Australians yet to be born with the disease, as well as to their families and carers. The Foundation is proud to bring hope to the FSHD community for a future without the burden of FSHD, where their muscles are once again given life, and they can live the fulfilling, pain-free life everyone deserves. 

To find out more about FSHD Global Research Foundation, visit fshdglobal.org