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Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

MONDO:0016145

Also known as: dysferlinopathy, qualitative or quantitative defects of dysferlin

2 clinical trials for this condition and its sub-types.

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Sub-types

Autosomal recessive limb-girdle muscular dystrophy type 2B (2) Congenital myopathy, Paradas type (0) Distal myopathy with anterior tibial onset (0) Miyoshi muscular dystrophy 1 (0)

Broader categories

Disease (618) Nervous system disorder (217) Hereditary disease (172) Human disease (14) Hereditary neurological disease (5) Disease of genetic or genomic mechanism (2) Disease by body system or component (0) Disease by etiologic mechanism (0) Qualitative or quantitative protein defects in neuromuscular diseases (0)
Trials to join now! 1 Terminated 1
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  • Experimental gene therapy for rare muscle disease tested in just 2 people

    Disease control Terminated

    This was a very early (Phase 1) study testing a gene therapy called SRP-6004 for people with limb girdle muscular dystrophy type 2B/R2, a rare muscle-weakening disease. The goal was to see if a single IV infusion of the therapy is safe and can help the body produce a missing prot…

    Phase: PHASE1 • Sponsor: Sarepta Therapeutics, Inc. • Aim: Disease control

    Last updated Jun 26, 2026 14:20 UTC

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