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By June Kinoshita, FSHD Society
The 2025 International Research Congress (IRC) on Facioscapulohumeral Muscular Dystrophy (FSHD) convened June 12-13 in Amsterdam and online, gathering the world’s leading scientists, clinicians, and industry experts to share the latest advances in FSHD research and therapy development. This year’s congress highlighted not only the accelerating pace of scientific discovery but also the growing momentum toward effective treatments for this challenging and progressive muscle disease.
One of the most anticipated updates came from the FORTITUDE™ trial of Del-brax (delpacibart braxlosiran), an investigational therapy by Avidity Biosciences that directly targets the root cause of FSHD—DUX4 gene expression. Phase 1/2 results presented at the congress showed:
Consistent improvements compared to placebo in muscle strength and mobility using the 10-Meter Walk-Run test, Timed Up and Go, Reachable Workspace (for upper arm range of motion) and quantitative muscle testing.
Better quality of life as reported by patients.
Significant reductions in DUX4-regulated biomarkers (such as KHDC1L) and creatine kinase, a marker of muscle damage.
Favorable safety profile: Most adverse events were mild or moderate, with no serious or severe events and no discontinuations.
A global Phase 3 trial (FORWARD™) is now underway, and the company is preparing for regulatory submission in 2026, raising hopes for the first approved therapy for FSHD.
Richard Lemmers (University of Leiden) presented groundbreaking work on FSHD prevalence in sub-Saharan Africa. While the genetic background (4qA allele) that predisposes to FSHD is common in this population, the disease itself appears less prevalent than in Europeans or Asians. Only about 15-20 cases were identified, most with some European ancestry, and just two with pure African ancestry. This raises intriguing questions about genetic susceptibility and the need for further research to understand why FSHD rates are lower than expected in African populations.
Beatrice Biferali (San Raffaele Scientific Institute, Italy) showcased new data on the role of inflammation in FSHD. The DUX4 gene, central to FSHD pathology, activates pro-inflammatory pathways that drive muscle wasting. Mouse studies show that targeting interferon gamma—a key immune molecule—can reduce inflammation and muscle deterioration. Several drugs that suppress interferon gamma, already approved for other conditions, could be repurposed for FSHD, though human trials are still needed.
Adam Fogel (Scholar Rock) reported on SRK-015, a myostatin inhibitor, in FSHD mouse models. The therapy significantly improved muscle mass, strength, and endurance, suggesting potential benefit for people with FSHD. SRK-015 works by targeting myostatin in its immature form, potentially offering greater efficacy than previous myostatin inhibitors. Human trials in related diseases (SMA) have already demonstrated improved muscle strength, making SRK-015 a promising candidate as a companion therapy to DUX4-targeted treatments.
Silvia Blemker (Springbok Analytics) introduced a multi-scale machine learning model that uses MRI scans and patient data to predict how FSHD will affect muscle and movement over time. This approach outperforms traditional clinical tests, offering more precise tracking of disease progression and helping to select and monitor participants in clinical trials. MRI-based models are poised to become invaluable tools for both researchers and patients.
Jon Street (Sheffield Teaching Hospitals) presented research on using wearable sensors (IMUs) to measure gait changes in FSHD. These sensors capture subtle changes in walking patterns and trunk movement, providing a more sensitive and detailed assessment than standard timed walk tests. This technology could revolutionize how clinicians and researchers monitor disease impact and progression in both clinical studies and daily practice.
Emma Weatherley (FSHD Global Research Foundation) emphasized the urgent need for better advance care planning and palliative care for people with FSHD, especially in later stages of the disease. A new expert workshop and patient survey aim to establish guidelines that will improve quality of life and reduce hospitalizations by integrating early palliative care into standard practice.
The 2025 IRC underscored the rapid progress in FSHD research—from genetics and inflammation to real-world monitoring and the first disease-modifying therapies on the horizon. With multiple promising candidates advancing through the pipeline, and new tools for tracking and understanding the disease, the FSHD community has more reasons than ever to be hopeful.
As research continues to accelerate, collaboration between scientists, clinicians, industry, and patients remains critical to turning these breakthroughs into real-world therapies and improved quality of life for everyone affected by FSHD.
