Myopathy caused by variation in POMGNT1
MONDO:0700068Any myopathy in which the cause of the disease is a variation in the POMGNT1 gene.
Also known as: POMGNT1 myopathy, POMGNT1-related myopathy, myopathy caused by mutation in POMGNT1
3 clinical trials for this condition and its sub-types, 0 tagged with Myopathy caused by variation in POMGNT1 itself.
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Sub-types of Myopathy caused by variation in POMGNT1
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New handheld scanner could replace MRI for muscle disease monitoring
Diagnosis Recruiting nowThis study is testing a handheld device called mScan that uses a tiny, painless electrical current to measure muscle health. Researchers want to see if it can give similar results to an MRI, but faster and more conveniently. The study involves 150 adults with and without muscle d…
Sponsor: Beth Israel Deaconess Medical Center • Aim: Diagnosis
Last updated Jun 27, 2026 12:03 UTC
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Wearable tech tracks fatigue in muscle disease patients
Knowledge-focused Recruiting nowThis study aims to find better ways to measure fatigue and walking problems in people with neuromuscular diseases like muscular dystrophy and spinal muscular atrophy. Researchers will use a wearable sensor to track physical activity for one week in daily life and during a walking…
Sponsor: IRCCS Eugenio Medea • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:12 UTC
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Major study aims to better measure muscular dystrophy progression
Knowledge-focused Recruiting nowThis 24-month observational study will follow up to 1000 people with certain types of muscular dystrophy (LGMD, DM2, and late-onset Pompe disease) aged 6-50. Researchers want to see if specific physical tests, like the North Star Assessment and a 100-meter walk, are good ways to …
Sponsor: Virginia Commonwealth University • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:57 UTC