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, 3 tagged with GNE myopathy itself.
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Scientists track rare muscle disease to unlock its secrets
Knowledge-focused CompletedThis study followed 78 people with GNE myopathy, a rare genetic disease that causes progressive muscle weakness starting in young adulthood. Researchers collected medical history, blood samples, and muscle function tests over up to two years to understand how the disease progress…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Sep 18, 2026 00:00 UTC
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Can a global patient registry unlock the secrets of a rare muscle disease?
Knowledge-focused CompletedThis study is building an international registry of people with GNE myopathy, an ultra-rare muscle disease that causes progressive weakness and often leads to wheelchair use. Participants will complete online questionnaires about their symptoms, medical history, quality of life, …
Sponsor: Newcastle University • Aim: Knowledge-focused
Last updated Aug 19, 2026 00:00 UTC