Facioscapulohumeral Muscular Dystrophy Clinical Trials 2026 — Find Recruiting Studies

About Facioscapulohumeral Muscular Dystrophy

Facioscapulohumeral Muscular Dystrophy is caused by the aberrant expression of the transcription factor DUX4 in skeletal muscle, most commonly due to contraction of the D4Z4 repeat array on chromosome 4q35 (FSHD1). It presents with a descending pattern of weakness beginning in facial and shoulder girdle muscles, and its course is highly variable, from subclinical to wheelchair dependence. Approximately 20% of patients eventually require a wheelchair.

Common Clinical Features

Facial weakness (difficulty closing eyes, smiling, or whistling) Scapular winging and shoulder girdle weakness Foot drop and lower leg weakness (peroneal pattern) Asymmetric muscle involvement Sensorineural hearing loss in early-onset cases Retinal vascular disease (Coats disease variant) in severe cases Pain and fatigue disproportionate to muscle loss

Clinical Trial Eligibility Tips

What to know before applying to Facioscapulohumeral Muscular Dystrophy trials.

FSHD1 trials require genetic confirmation of D4Z4 repeat number (1–9 units on a permissive 4qA allele); Southern blot or molecular combing results are standard

Reachable Workspace (RWS) and scapular fixation assessments are common primary endpoints — physiotherapy documentation of scapular winging grade is useful

FSHD2 patients (SMCHD1 mutations) may be excluded from FSHD1-specific trials; clarify your genetic subtype before applying