Autosomal recessive limb-girdle muscular dystrophy type 2I
MONDO:0011787A subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.
Also known as: FKRP autosomal recessive limb-girdle muscular dystrophy, LGMD-FKRP related, LGMD2I, MDDGC5, autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP, limb-girdle muscular dystrophy due to FKRP deficiency, muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5, muscular dystrophy-dystroglycanopathy (limb-girdle), type C5
14 clinical trials for this condition and its sub-types, 8 tagged with Autosomal recessive limb-girdle muscular dystrophy type 2I itself.
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Hope for rare muscle disease: new drug enters final testing phase
Disease control OngoingThis study tests a drug called BBP-418 (Ribitol) in 81 people aged 12 to 60 with limb girdle muscular dystrophy type 2I (LGMD2I), a genetic condition that causes progressive muscle weakness. Participants receive either the drug or a placebo for 36 months to see if it slows the di…
Phase 3 • Sponsor: ML Bio Solutions, Inc. • Aim: Disease control
Last updated Sep 11, 2026 00:00 UTC
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Gene therapy trial offers hope for rare muscle disease
Disease control OngoingThis study tests a single dose of a gene therapy called AB-1003 in 10 adults with a rare genetic muscle disease (LGMD2I/R9). The goal is to see if it is safe and can help improve muscle function. Participants must be able to walk or run 10 meters in under 30 seconds.
Phase 1/2 • Sponsor: AskBio Inc • Aim: Disease control
Last updated Aug 28, 2026 00:00 UTC
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Experimental drug targets root cause of rare muscle-wasting disease
Disease control OngoingThis study tests an experimental drug, BBP-418, in people with limb girdle muscular dystrophy type 2I (LGMD2I), a rare genetic condition that causes progressive muscle weakness. The drug aims to fix a molecular defect by helping a faulty enzyme work better. The trial includes bot…
Phase 2 • Sponsor: ML Bio Solutions, Inc. • Aim: Disease control
Last updated Jul 23, 2026 00:00 UTC
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Hope for muscle strength: experimental drug tested for Long-Term use in rare muscular dystrophy
Disease control OngoingThis study tests the long-term safety and effectiveness of an experimental drug called BBP-418 (ribitol) in people with limb-girdle muscular dystrophy type 2I/R9, a rare genetic muscle-weakening disease. Participants who completed a previous study will take BBP-418 orally twice d…
Phase 3 • Sponsor: ML Bio Solutions, Inc. • Aim: Disease control
Last updated Jul 04, 2026 00:00 UTC
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Experimental gene therapy targets rare muscle disease
Disease control OngoingThis early-stage trial tests a gene therapy called ATA-100 for people with LGMDR9, a rare genetic muscle disease that causes progressive weakness. Six adults receive a single intravenous infusion of the therapy, which delivers a working copy of the FKRP gene. The main goal is to …
Phase 1 • Sponsor: Atamyo Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 07:54 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