Sarcoglycanopathy
MONDO:0016140Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.
Also known as: qualitative or quantitative defects of sarcoglycan
10 clinical trials for this condition and its sub-types, 3 tagged with Sarcoglycanopathy itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Sarcoglycanopathy
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Qualitative or quantitative defects of beta-sarcoglycan 0 trials · 5 incl. sub-types
1 sub-type
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Qualitative or quantitative defects of gamma-sarcoglycan 1 trial · 4 incl. sub-types
1 sub-type
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Qualitative or quantitative defects of alpha-sarcoglycan 0 trials · 3 incl. sub-types
1 sub-type
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Qualitative or quantitative defects of delta-sarcoglycan 0 trials · 2 incl. sub-types
2 sub-types
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One-Time gene therapy aims to halt rare muscle disease
Disease control OngoingThis study tests a single dose of SRP-9003 gene therapy in 17 people with limb girdle muscular dystrophy 2E/R4, a genetic muscle-weakening disease. The goal is to restore a missing protein in muscle cells and improve muscle function. Both walkers and non-walkers can join, and the…
Phase 3 • Sponsor: Sarepta Therapeutics, Inc. • Aim: Disease control
Last updated Jun 27, 2026 09:10 UTC
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Experimental gene therapy targets rare muscle disease in first human test
Disease control OngoingThis early-phase trial tests a single-dose gene therapy called SRP-9003 in 6 people with limb girdle muscular dystrophy type 2E/R4, a rare genetic muscle-weakening disease. The main goals are to check safety and see if the therapy can produce the missing beta-sarcoglycan protein …
Phase 1 • Sponsor: Sarepta Therapeutics, Inc. • Aim: Disease control
Last updated Jun 27, 2026 09:06 UTC
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Gene therapy hope for kids with rare muscle-wasting disease
Disease control OngoingThis early-stage trial tests a single intravenous dose of a gene therapy (ATA-200) in 4 children aged 6-12 with limb-girdle muscular dystrophy type 2C/R5 (LGMD2C), a rare genetic muscle-weakening condition. The goal is to see if the treatment is safe and tolerable by delivering a…
Phase 1 • Sponsor: Atamyo Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 09:00 UTC
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Researchers hunt for muscle clues in rare dystrophy
Knowledge-focused OngoingThis pilot study looks at biomarkers in the blood of people with fragile sarcolemmal muscular dystrophy, a condition that makes muscle membranes weak. Researchers will collect blood samples at rest and after exercise during four 5-day hospital stays. The goal is to better underst…
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Sep 18, 2026 00:00 UTC
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Scientists watch LGMD progress in 205 patients over years
Knowledge-focused OngoingThis study follows 205 people with four types of limb-girdle muscular dystrophy (LGMD) to understand how the disease changes over time. Participants will have their muscle strength, movement, and breathing tested regularly for up to 5 years. No treatment is given; the goal is to …
Sponsor: Sarepta Therapeutics, Inc. • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:56 UTC
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New study aims to map rare muscle disease progression
Knowledge-focused CancelledThis study was designed to track the natural course of gamma-sarcoglycanopathy (LGMDR5), a rare muscle-weakening disease, over two years. Researchers planned to measure changes in muscle strength, walking ability, and daily function in patients aged 6 to 35. The goal was to bette…
Sponsor: Atamyo Therapeutics • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:54 UTC