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
72 clinical trials for this condition and its sub-types.
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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: PHASE3 • 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: PHASE1 • Sponsor: Atamyo Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 07:54 UTC
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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: PHASE3 • Sponsor: ML Bio Solutions, Inc. • Aim: Disease control
Last updated Jun 27, 2026 07:52 UTC
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New vitamin supplements aim to make life easier for kids with rare metabolic disorders
Symptom relief OngoingThis study tests new vitamin and mineral supplements called EasiVits for children aged 1-16 with inborn errors of metabolism (IEM). These supplements have less carbohydrate and no flavor, so they can be used with different diets and kids can add their own taste. The goal is to se…
Phase: NA • Sponsor: NeoteriQ Ltd. • Aim: Symptom relief
Last updated Jun 27, 2026 13:00 UTC
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Weekly Check-Ins could boost patient satisfaction for chronic pain
Knowledge-focused TerminatedThis study looked at whether having more frequent contact with a clinician (at least once a week) improves satisfaction for people with long-lasting musculoskeletal conditions. Participants were split into two groups: one with standard contact and one with extra check-ins via tex…
Phase: NA • Sponsor: University of Texas at Austin • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:06 UTC
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Massive genetic study aims to unlock secrets of rare metabolic diseases
Knowledge-focused ENROLLING_BY_INVITATIONThis study will collect and analyze genetic data from 1000 people with suspected inherited metabolic diseases, including conditions like epilepsy and mitochondrial disorders. Researchers at Karolinska University Hospital aim to improve diagnosis by using advanced genetic testing …
Sponsor: Region Stockholm • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:38 UTC
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Study on COVID-19 and metabolic disorders pulled before it began
Knowledge-focused TerminatedThis study was designed to track how COVID-19 infection might worsen the condition of people with inherited metabolic diseases (IMD). Researchers planned to collect information from French patients with IMD who had or had COVID-19 to see how often their metabolic disease got wors…
Sponsor: University Hospital, Lille • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:37 UTC
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Can a special clinic get workers back on the job faster? norway launches massive study.
Knowledge-focused OngoingThis study tests whether a Norwegian clinic (NSAC) helps people with common mental health issues or muscle pain return to work sooner. 2500 adults are split into three groups: one gets treatment quickly, one waits 10-14 weeks, and one gets a basic check-up. Researchers will track…
Phase: NA • Sponsor: Nordlandssykehuset HF • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:30 UTC
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Massive PT study mines 4 million records to find what works best
Knowledge-focused OngoingThis study looks back at the medical records of about 4 million people who had physical or occupational therapy for muscle and joint problems. Researchers want to see if different ways of giving therapy lead to different results. No new treatments are tested—the goal is to learn …
Sponsor: ATI Holdings, LLC • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:11 UTC
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Phone app vs. doctor: can a mobile tool catch infections after surgery?
Knowledge-focused TerminatedThis study aimed to see if a mobile monitoring tool could accurately identify surgical site infections (SSIs) in orthopedic surgery patients, compared to the usual manual review. The study was withdrawn before enrolling any participants, so no results are available. It was design…
Phase: NA • Sponsor: Stanford University • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:08 UTC