Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
MONDO:0019195A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. Hypotonia, neonatal respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue.
Also known as: HIBM3, IBM3, hereditary inclusion body myopathy type 3, inclusion body myopathy type 3, Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia, Hereditary inclusion body myopathy type 3, Inclusion body myopathy autosomal dominant, Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles
5 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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Virtual park cycling could slow muscle decline in children
Symptom relief Recruiting nowThis study tests whether cycling while using a virtual park app can slow the loss of motor function in children and teens with neuromuscular diseases like muscular dystrophy. Twenty-two participants will first receive standard care for 3 months, then use the virtual park bike 3 t…
Phase: NA • Sponsor: Istituto di Sistemi e Tecnologie Industriali Intelligenti per il Manifatturiero Avanzato • Aim: Symptom relief
Last updated Aug 13, 2026 00:00 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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Simple blood test may predict muscle disease severity
Knowledge-focused Recruiting nowThis study is looking at whether a molecule in the blood called miR-1 can help doctors understand how muscle diseases like Duchenne muscular dystrophy and myotonic dystrophy are progressing. Researchers will compare miR-1 levels in 104 people, including patients with different mu…
Phase: NA • Sponsor: University Hospital, Clermont-Ferrand • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:07 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