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.
Follow this condition — get notified about new trialsSub-types
Broader categories
-
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: PHASE1, PHASE2 • Sponsor: Avidity Biosciences, Inc. • Aim: Disease control
Last updated Jul 18, 2026 00:00 UTC
-
AI spots rare muscle disease from a simple video
Diagnosis CompletedThis completed pilot study tested whether a computer algorithm could diagnose facioscapulohumeral muscular dystrophy (FSHMD) by analyzing video recordings of people's faces. Researchers recorded 17 participants, including patients with FSHMD, other muscle diseases, and healthy co…
Phase: NA • Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Diagnosis
Last updated Jun 27, 2026 12:37 UTC
-
How much protein do FSHD patients really need? new study aims to find out
Knowledge-focused CompletedThis study looks at how much protein adults with facioscapulohumeral muscular dystrophy (FSHD) need each day to support muscle health. Researchers will test different amino acid intakes in 10 participants using a non-invasive technique. The goal is to improve dietary recommendati…
Phase: NA • Sponsor: McGill University • Aim: Knowledge-focused
Last updated Jul 11, 2026 00:00 UTC
-
Tiny study probes muscle oxygen in rare nerve and muscle diseases
Knowledge-focused CompletedThis completed study looked at how muscle oxygen levels change during exercise in people with various neuromuscular diseases compared to healthy volunteers. Seventeen participants did a knee-extension exercise while a device measured muscle oxygen. The goal was to understand diff…
Phase: NA • Sponsor: University Hospital, Lille • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:23 UTC
-
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…
Phase: NA • Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:00 UTC
-
New tool could better track facial muscle health in rare muscle disease
Knowledge-focused CompletedThis study tested a new method to evaluate the strength and function of face and mouth muscles in people with facioscapulohumeral muscular dystrophy (FSHD). Twenty-two adults with a genetic diagnosis of FSHD took part. The goal was to see if this new assessment tool can reliably …
Phase: NA • Sponsor: University of Mons • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:09 UTC
-
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…
Phase: NA • Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:05 UTC
-
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