Facioscapulohumeral muscular dystrophy
MONDO:0001347An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well.
Also known as: FSH dystrophy, FSHD, facioscapulohumeral dystrophy, facioscapulohumeral muscular dystrophy, facioscapulohumeral myopathy
42 clinical trials for this condition and its sub-types.
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Broader categories
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Experimental gene 'Silencer' therapy enters human testing for rare muscle disease
Disease control OngoingThis early-phase trial is testing EPI-321, a one-time gene therapy designed to silence the faulty gene that causes facioscapulohumeral muscular dystrophy (FSHD). The study will enroll 12 adults with FSHD Type 1 to see if the treatment is safe and tolerable, and whether it shows a…
Phase: PHASE1, PHASE2 • Sponsor: Epicrispr Biotechnologies, Inc. • Aim: Disease control
Last updated Jul 22, 2026 00:00 UTC
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New hope for FSHD: Long-Term drug safety trial underway
Disease control OngoingThis study is for people with FSHD, a genetic disease that causes muscle weakness. It tests the long-term safety and how well the body tolerates a drug called AOC 1020, given through a vein. About 84 adults who completed a previous study will take part. The main goal is to check …
Phase: PHASE2 • Sponsor: Avidity Biosciences, Inc. • Aim: Disease control
Last updated Jul 16, 2026 00:00 UTC
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New antibody aims to block muscle wasting in rare disease
Disease control OngoingThis Phase 2 trial tests a drug called RO7204239 in 51 adults with facioscapulohumeral muscular dystrophy (FSHD), a genetic condition that causes progressive muscle weakness. The drug is an antibody that blocks myostatin, a protein that normally limits muscle growth, to help pres…
Phase: PHASE2 • Sponsor: Hoffmann-La Roche • Aim: Disease control
Last updated Jun 27, 2026 14:00 UTC
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New test could predict falls in muscle disease patients
Diagnosis ENROLLING_BY_INVITATIONThis study aims to create a simple test battery to determine fall risk in people with neuromuscular disorders, such as muscular dystrophy or ALS. Researchers will assess 108 participants using several physical tests like walking, standing, and rising from a chair. The goal is to …
Sponsor: LMU Klinikum • Aim: Diagnosis
Last updated Jun 26, 2026 16:30 UTC
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Can MRI reveal the hidden progression of muscular dystrophy?
Knowledge-focused OngoingThis study is looking at how magnetic resonance imaging (MRI) and spectroscopy can be used to detect and track changes in the muscles of people with facioscapulohumeral muscular dystrophy (FSHD). The goal is to identify reliable biomarkers—measurable indicators of disease activit…
Sponsor: Hugo W. Moser Research Institute at Kennedy Krieger, Inc. • Aim: Knowledge-focused
Last updated Aug 07, 2026 00:00 UTC
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New tools aim to speed up FSHD drug trials
Knowledge-focused OngoingThis study involves 324 adults with facioscapulohumeral muscular dystrophy (FSHD) across 14 international sites. Researchers are testing two new measurement tools—a functional test called FSHD-COM and a muscle-impedance device—to better track disease progression. The goal is to i…
Sponsor: University of Kansas Medical Center • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:06 UTC
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New study aims to speed up FSHD drug development
Knowledge-focused OngoingThis study is working to create better tools for measuring muscle function in people with facioscapulohumeral muscular dystrophy (FSHD). Researchers will follow 100 adults with FSHD for up to 24 months, testing new ways to track disease progression. The goal is to make future cli…
Phase: NA • Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:01 UTC
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New tools to track FSHD in wheelchair users
Knowledge-focused OngoingThis study aims to find better ways to measure disease progression in people with advanced facioscapulohumeral muscular dystrophy (FSHD) who use wheelchairs. Researchers will test various muscle strength and function tests over two years in 30 adults. The goal is to develop relia…
Phase: NA • Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:51 UTC
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New study aims to design better braces for FSHD patients using MRI and motion capture
Knowledge-focused ENROLLING_BY_INVITATIONThis observational study will enroll 40 adults with facioscapulohumeral muscular dystrophy (FSHD) to understand how muscle degeneration affects movement. Researchers will use MRI to assess muscle health and 3D motion capture to analyze walking and posture. The goal is to create a…
Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS • Aim: Knowledge-focused
Last updated Jun 26, 2026 15:29 UTC