GNE myopathy
MONDO:0011603Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps.
Also known as: DMRV, HIBM2, IBM2, Nonaka myopathy, distal myopathy with rimmed vacuoles, distal myopathy, Nonaka type, hereditary inclusion body myopathy type 2, inclusion body myopathy autosomal recessive
8 clinical trials for this condition and its sub-types.
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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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Scientists launch major study to unravel mysteries of muscle inflammation
Knowledge-focused Recruiting nowThis study aims to collect medical information and tissue samples from 500 people with suspected or confirmed inflammatory muscle diseases, as well as healthy volunteers. Researchers will use blood, muscle, and skin samples to study what causes these diseases and how they progres…
Sponsor: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) • Aim: Knowledge-focused
Last updated Jun 28, 2026 00:00 UTC
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Scientists hunt for clues to fatigue in Low-Platelet patients
Knowledge-focused Recruiting nowThis study looks for substances in the blood that might be linked to fatigue in people with low platelet counts (thrombocytopenia). Researchers think a protein called BDNF, which is stored in platelets, could play a role. They will measure BDNF levels in 280 patients and healthy …
Phase: NA • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:01 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