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Sarcoglycanopathy

MONDO:0016140

Deficiencies 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.

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Where it sits in the disease tree

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Part of

↑ Qualitative or quantitative protein defects in neuromuscular diseases (30)

Sub-types of Sarcoglycanopathy

Qualitative or quantitative defects of beta-sarcoglycan 0 trials · 5 incl. sub-types
1 sub-type
- Autosomal recessive limb-girdle muscular dystrophy type 2E 5 trials
Qualitative or quantitative defects of gamma-sarcoglycan 1 trial · 4 incl. sub-types
1 sub-type
- Autosomal recessive limb-girdle muscular dystrophy type 2C 4 trials
Qualitative or quantitative defects of alpha-sarcoglycan 0 trials · 3 incl. sub-types
1 sub-type
- Autosomal recessive limb-girdle muscular dystrophy type 2D 3 trials
Qualitative or quantitative defects of delta-sarcoglycan 0 trials · 2 incl. sub-types
2 sub-types
- Autosomal recessive limb-girdle muscular dystrophy type 2F 2 trials
- Dilated cardiomyopathy 1L 0 trials

Including sub-types (10) Tagged with Sarcoglycanopathy (3)

Trials to join now! 1 Not yet finished but already full! 1 Completed 1

Major study aims to better measure muscular dystrophy progression

Knowledge-focused Recruiting now

This 24-month observational study will follow up to 1000 people with certain types of muscular dystrophy (LGMD, DM2, and late-onset Pompe disease) aged 6-50. Researchers want to see if specific physical tests, like the North Star Assessment and a 100-meter walk, are good ways to …

Sponsor: Virginia Commonwealth University • Aim: Knowledge-focused

Last updated Jun 27, 2026 07:57 UTC

Sarcoglycanopathy

Where it sits in the disease tree

Major study aims to better measure muscular dystrophy progression