Facioscapulohumeral Muscular Dystrophy (FSHD) Clinical Trials

FSHD is caused by contraction of the D4Z4 repeat region on chromosome 4q35, which normally has 11 to more than 100 repeats. People with FSHD1 have 1 to 10 repeats. In FSHD1, the smaller repeat array leads to aberrant chromatin opening and expression of the normally silenced DUX4 gene.

The most common symptoms of Facioscapulohumeral Muscular Dystrophy include Progressive weakness of facial muscles affecting ability to smile or close eyes, Shoulder weakness and winging of scapula, Upper arm weakness and difficulty lifting arms overhead, Asymmetric weakness pattern, often starting on one side, Difficulty with stairs and walking in later stages, among others. About 1 in 20,000 people (MedlinePlus Genetics); one of the most common hereditary muscular dystrophies. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Facioscapulohumeral Muscular Dystrophy from ClinicalTrials.gov, with eligibility criteria translated into plain English. Patients can filter by trial phase and recruitment status, search by location, and use the Match Me tool to score trials against their profile. Facioscapulohumeral Muscular Dystrophy research is focused on suppressing the toxic DUX4 protein that drives disease. Antisense oligonucleotides, small molecule inhibitors, and gene therapy approaches are all being tested to reduce DUX4 and prevent muscle damage.

As of October 21, 2026, no current FDA drug label names Facioscapulohumeral Muscular Dystrophy as a condition the drug treats.

Facioscapulohumeral Muscular Dystrophy is caused by variants in the DUX4 and SMCHD1 genes. FSHD1 is a contraction of the D4Z4 repeat on chromosome 4q35 that de-represses DUX4 and needs a specialized repeat/methylation test rather than sequencing; FSHD2 is usually an SMCHD1 variant plus a permissive 4qA allele.

It is autosomal dominant, so each child of an affected parent has a 1 in 2 chance of inheriting it. About 1 in 20,000 people (MedlinePlus Genetics); one of the most common hereditary muscular dystrophies. Genetic testing confirms the diagnosis.

Yes. Genetic testing for Facioscapulohumeral Muscular Dystrophy looks at the DUX4 and SMCHD1 genes. FSHD1 is a contraction of the D4Z4 repeat on chromosome 4q35 that de-represses DUX4 and needs a specialized repeat/methylation test rather than sequencing; FSHD2 is usually an SMCHD1 variant plus a permissive 4qA allele.

It is autosomal dominant, so each child of an affected parent has a 1 in 2 chance of inheriting it.

A confirmed variant establishes the diagnosis and is often required to enroll in gene-specific trials. The labs currently offering the test are listed in the Genetic Testing section of this page, pulled live from the NIH Genetic Testing Registry. A genetic counselor can help interpret the result and decide which relatives should be tested.

Eligibility for Facioscapulohumeral Muscular Dystrophy clinical trials depends on factors like age, diagnosis, treatment history, and overall health. Each trial sets its own inclusion and exclusion criteria. Trial Friend translates these requirements from medical language into plain English so patients can review them more easily. The Match Me tool can score your profile against active trials to help identify studies that may be a fit.

Participating in a Facioscapulohumeral Muscular Dystrophy clinical trial typically involves scheduled visits, medical tests, and close monitoring by a research team. Depending on the study phase, you may receive an investigational treatment, a placebo, or the current standard of care. Trials may last from a few weeks to several years. Study participation is voluntary, and you can withdraw at any time.