The 2025 International Research Congress on FSHD, held 12–13 June in Amsterdam and online, brought together more than 250 researchers, clinicians, industry leaders, and patient advocates from around the world. The congress highlighted how rapidly the FSHD field is advancing, with updates on gene-targeting therapies, antisense oligonucleotides, epigenetic modifiers, and cell-based approaches moving closer to clinical application. Presentations focused on improving outcome measures, strengthening international natural history studies, and preparing patients and healthcare systems for the wave of clinical trials expected to launch in the next two to three years. Importantly, the congress emphasised the value of collaboration between research, clinical care, and patient communities, underscoring how patient-led initiatives, such as registries and co-designed clinical trial readiness programs, are helping to accelerate the pathway from scientific discovery to treatment.
FSHD Global Research Foundation contributed significantly to the scientific program. A highlight was the presentation of the Springbok Analytics disease progression model, a first-of-its-kind AI tool built on whole-body MRI data, which predicts muscle decline patterns and improves the sensitivity of clinical trial design. This technology has the potential to shorten trial timelines and reduce costs, helping us get effective therapies to our families faster. In a powerful session on clinical care, our Managing Director, Emma Weatherley co-presented with Prof Nicol Voermans (European FSHD Clinical Trial Network/FSHD Europe) on advance care planning and palliative care in FSHD, a crucial and often overlooked aspect of managing this complex disease. The congress also provided opportunities to engage directly with pharmaceutical companies and sponsors actively planning studies in Europe, North America, the UK, Asia and Australia. These networking sessions confirmed that Australian sites and patients, supported by FSHD Global’s “Cure FSHD” registry and clinical trial passports, are well placed to participate in forthcoming trials. The optimism and energy throughout the congress reflected a community unified around one goal: bringing effective treatments, and ultimately a cure, to people living with FSHD worldwide.
Following the research congress, we were delighted to attend FSHD Europe’s first-ever Patient Connect meeting, bringing together people living with FSHD, families, researchers, and advocates from across the continent. This historic event provided an open and supportive space for patients to hear directly from international experts, learn about the latest research breakthroughs, and connect with others facing similar challenges. Sessions covered practical topics such as navigating clinical care pathways, preparing for clinical trial participation, and improving quality of life through mobility, mental health support, and community-based resources. For us, it was a powerful reminder of the strength of the FSHD global community and the importance of ensuring the patient voice is at the heart of every research and care initiative.
Warm regards,
Emma Weatherley
CEO and Managing Director
FSHD Global Research Foundation