Facioscapulohumeral muscular dystrophy (FSHD) is an inherited muscular dystrophy characterized by progressive weakness of facial, scapular, humeral, trunk, and lower-extremity muscles. Disease expression is variable, and onset can occur from childhood through adulthood. FSHD is one of the most common forms of muscular dystrophy.
Researchers have identified KHDC1L as a circulating biomarker for DUX4 activity in facioscapulohumeral muscular dystrophy (FSHD). The discovery could enable non-invasive blood-based monitoring of disease progression instead of muscle biopsies. The finding emerged from collaboration between academic researchers and Avidity Biosciences scientists.
Regulatory incentives for rare disease treatments, including market exclusivity and development subsidies, are spurring pharmaceutical innovation across the US, Europe, Japan, and Australia, with multiple companies advancing therapies for conditions affecting limited patient populations.
Dyne Therapeutics is preparing a U.S. Accelerated Approval submission for z-rostudirsen in Duchenne muscular dystrophy and gearing up for a Phase 3 trial of z-basivarsen in myotonic dystrophy, while scaling operations to support potential commercialization.
| NCT ID | Title | Status | Phase |
|---|---|---|---|
| NCT07435129 |
Phase 2 Study Evaluating Apitegromab for the Treatment of FSHD |
NOT_YET_RECRUITING | PHASE2 |
| NCT07409142 |
BetterLife FSHD: A Patient-driven Health and Research Platform |
RECRUITING | |
| NCT07331025 |
Ultrasound Detection of Early Facial Muscle Changes in FSHD: Thickness and Echo Intensity Findings |
COMPLETED | |
| NCT07038200 |
A Study to Evaluate Del-brax (Also Referred to as AOC 1020) in Participants With FSHD |
RECRUITING | PHASE3 |
| NCT06907875 |
A First-in-human Study of EPI-321 in Facioscapulohumeral Muscular Dystrophy |
RECRUITING | PHASE1/PHASE2 |
| NCT06708468 |
Personalized Training for People With Rare Neuromuscular Disorders |
RECRUITING | NA |
| NCT06425445 |
Quantitative Assessment of Orofacial Muscle Function in FSHD |
COMPLETED | NA |
| NCT06086548 |
Unraveling Metabolic Involvement in Facioscapulohumeral Dystrophy Through Metabolomics |
NOT_YET_RECRUITING | |
| NCT05453461 |
ADVANCED FSHD-COM: New Clinical Outcome Measures to Evaluate Non-ambulant FSHD Patients, a Pilot Study |
ACTIVE_NOT_RECRUITING | NA |
| NCT05178706 |
Effectiveness of Upper Extremity Rehabilitation in pwFSHD (Patient With Facioscapulohumeral Dystrophia) |
COMPLETED |
