FSHD Global Research Foundation (FSHD Global) is Australia’s peak body for Facioscapulohumeral Muscular Dystrophy (FSHD), a genetic muscle-wasting condition affecting more than 3,500 Australians and an estimated one million people worldwide. Since 2007, FSHD Global has been dedicated to funding world-class medical research, advancing diagnostics and therapeutics, and providing advocacy and education for the FSHD community. Guided by the values of innovation, integrity, collaboration and community, its mission is to accelerate the discovery and delivery of effective treatments and ultimately a cure.

In 2025, FSHD Global launched “Cure FSHD”, Australia’s first patient-led, technology-enabled registry for FSHD. Co-designed with people living with the disease, “Cure FSHD” transforms how patients engage in research and manage their health. At its core is the “Clinical Trial Passport”, a personalised e-health hub that stores genetic results, advanced MRI scans, mental health screening and patient-reported outcomes. Unlike traditional registries, “Cure FSHD” gives participants ownership of their data, empowering them to use it in care planning, self-advocacy and clinical trial participation.

The initiative has already delivered remarkable outcomes. More than 200 Australians have enrolled within months, with many now recruited into the first interventional FSHD trials ever conducted in the country. Australian data is now integrated into the international Treat NMD registry, positioning the nation as an active contributor to global research. The model is also being white-labelled by other rare diseases, with FSHD Global freely sharing its intellectual property to accelerate therapies and increase research participation across the sector.

“Cure FSHD” is not only delivering trial readiness and hope for people with FSHD, but it is also creating a blueprint for patient-led innovation in rare disease research worldwide.

For more information about the FSHD Global Research Foundation, visit https://fshdglobal.org/.