Neuromuscular disease caused by qualitative or quantitative defects of tropomyosin
MONDO:0017303Also known as: qualitative or quantitative defects of tropomyosin
4 clinical trials for this condition and its sub-types, 0 tagged with Neuromuscular disease caused by qualitative or quantitative defects of tropomyosin itself.
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Browse by category →Sub-types of Neuromuscular disease caused by qualitative or quantitative defects of tropomyosin
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TPM2-related myopathy 1 trial · 3 incl. sub-types
2 sub-types
- Central core myopathy 2 trials
- Congenital myopathy 23 0 trials
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Childhood-onset nemaline myopathy 1 trial · 2 incl. sub-types
6 sub-types
- Nemaline myopathy 6 1 trial
- Congenital myopathy 23 0 trials
- Congenital myopathy 2a, typical, autosomal dominant 0 trials
- Congenital myopathy 4B, autosomal recessive 0 trials
- Nemaline myopathy 2 0 trials
- Nemaline myopathy 9 0 trials
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TPM3-related myopathy 1 trial
3 sub-types
- Cap myopathy 0 trials
- Congenital myopathy 4A, autosomal dominant 0 trials
- Congenital myopathy 4B, autosomal recessive 0 trials
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Intermediate nemaline myopathy 0 trials
4 sub-types
- Congenital myopathy 2a, typical, autosomal dominant 0 trials
- Congenital myopathy 4B, autosomal recessive 0 trials
- Nemaline myopathy 2 0 trials
- Nemaline myopathy 9 0 trials
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Typical nemaline myopathy 0 trials
6 sub-types
- Congenital myopathy 23 0 trials
- Congenital myopathy 2a, typical, autosomal dominant 0 trials
- Nemaline myopathy 10 0 trials
- Nemaline myopathy 2 0 trials
- Nemaline myopathy 7 0 trials
- Nemaline myopathy 9 0 trials
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Global study tracks rare muscle disease to pave way for future treatments
Knowledge-focused Recruiting nowThis study follows children and adults worldwide who have a rare genetic muscle disease called TNNT1 myopathy. Researchers aim to document how the disease progresses over time, including survival and motor milestones. The goal is to identify reliable measures that can be used in …
Sponsor: Clinic for Special Children • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:01 UTC
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Gene hunt for rare muscle diseases could unlock future treatments
Knowledge-focused Recruiting nowThis research study at Boston Children's Hospital is looking at the genes and proteins involved in congenital myopathies—rare muscle diseases that are present from birth. Researchers will analyze DNA from up to 4,000 participants, including patients and their family members, to f…
Sponsor: Boston Children's Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:00 UTC
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Spanish study tracks rare muscle disease to speed future treatments
Knowledge-focused Recruiting nowThis study follows 100 people in Spain with nemaline myopathy, a rare muscle disease, to see how their symptoms change over time. Researchers will use ultrasound, movement tests, and breathing checks to map the disease's natural course. The goal is to build a detailed patient dat…
Sponsor: Hospital Universitari Vall d'Hebron Research Institute • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:00 UTC