Facioscapulohumeral muscular dystrophy 1
MONDO:0008030Any facioscapulohumeral muscular dystrophy associated with contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35.
Also known as: FSHD, FSHD1, FSHD1A, Landouzy-Dejerine muscular dystrophy, facioscapulohumeral muscular dystrophy 1, facioscapulohumeral muscular dystrophy 1A, facioscapulohumeral muscular dystrophy type 1, muscular dystrophy, facioscapulohumeral, type 1A
19 clinical trials for this condition and its sub-types, 14 tagged with Facioscapulohumeral muscular dystrophy 1 itself.
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New hope for FSHD: experimental drug AOC 1020 completes early testing
Disease control CompletedThis study tested a new medicine called AOC 1020 in 90 adults with facioscapulohumeral muscular dystrophy (FSHD), a genetic condition that causes muscle weakness. The goal was to check if the drug is safe and how the body processes it. Participants received either the drug or a p…
Phase 1/2 • Sponsor: Avidity Biosciences, Inc. • Aim: Disease control
Last updated Jul 18, 2026 00:00 UTC
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Inflammation may be key in rare muscle disease
Knowledge-focused CompletedThis pilot study examined whether inflammation, measured by cytokines in the blood, plays a role in type 1 facioscapulohumeral muscular dystrophy (FSHD1). Researchers compared 20 FSHD1 patients with healthy controls to see if certain inflammatory markers are higher in the disease…
Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:00 UTC
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New app could help track muscle disease from your living room
Knowledge-focused CompletedThis study tested whether a mobile app (myFSHD) can help doctors monitor patients with facioscapulohumeral muscular dystrophy (FSHD) remotely. 70 adults with FSHD used the app at home for 12 months, completing questionnaires and video-recorded exercises. The goal was to see if pa…
Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:05 UTC
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Sound waves could spot early signs of rare muscle disease
Knowledge-focused CompletedThis study tested whether ultrasound can detect early facial muscle changes in people with facioscapulohumeral muscular dystrophy (FSHD), a rare muscle disease. Researchers compared 20 FSHD patients with 19 healthy adults, measuring muscle thickness and echo intensity in key faci…
Sponsor: Koç University • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:09 UTC