RecruitingNot applicableNCT06079567
Neuromuscular
Facioscapulohumeral Muscular Dystrophy
Also known as FSHD, Landouzy-Dejerine disease
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 descen
ORPHA:269 ↗Gene DUX4Prevalence 1 in 8,300 to 1 in 15,000Onset Adolescence to early adulthood (typically before age 20)Autosomal dominant (FSHD1); digenic (FSHD2)
20
studies recruiting now
as of 7 Sept 2026
93
studies registered in total
as of 7 Sept 2026
13
countries with a recruiting site
as of 7 Sept 2026
27 Feb 2026
most recent study posted
among recruiting studies
Recruiting trials
RecruitingPhase 2NCT07435129
Phase 2 Study Evaluating Apitegromab for the Treatment of FSHD
RecruitingNCT04001582
The United Kingdom Facioscapulohumeral Muscular Dystrophy Patient Registry
RecruitingPhase 1 / Phase 2NCT06131983
Study of SRP-1001 in Adult and Adolescent Participants With Facioscapulohumeral Muscular Dystrophy Type 1
RecruitingPhase 3NCT07038200
A Study to Evaluate Del-brax (Also Referred to as AOC 1020) in Participants With FSHD
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 20 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
Keep watching
Get an email when a new Facioscapulohumeral Muscular Dystrophy study opens.
One email a day at most. Unsubscribe with one click.
Used only for these alerts. Privacy.
Support
Patient organisations
Registry: FSHD Patient Registry · Join ↗. Registries connect patients to researchers and often hear about trials first.
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 weaknessFoot drop and lower leg weakness (peroneal pattern)Asymmetric muscle involvementSensorineural hearing loss in early-onset casesRetinal vascular disease (Coats disease variant) in severe casesPain and fatigue disproportionate to muscle loss
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
6 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 3Losmapimod
Phase 2Efmitermant Alfa
Phase 1/2Atyr-1940
Phase 1/2Stamulumab
Phase 1Somatropin (Genotropin)
Phase 1Testosterone Enanthate (Delatestryl)
Before you apply
Things trial teams commonly ask about for Facioscapulohumeral Muscular Dystrophy. Not eligibility rules; those are set by each study.
- 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
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).