Limb-Girdle Muscular Dystrophy (LGMD) Clinical Trials

Limb-Girdle Muscular Dystrophies are classified into autosomal dominant (LGMD1) and autosomal recessive (LGMD2/R) forms, further subdivided by specific genetic mutations. Genetic subtypes affect proteins involved in various cellular functions: sarcolemmal proteins (dystroglycans, sarcoglycans, caveolin), contractile proteins (titin, nebulin), Z-disk proteins, and ubiquitin proteasome pathway components. These proteins are critical for maintaining the structural integrity of muscle and proper cellular signaling.

The most common symptoms of Limb-Girdle Muscular Dystrophy include Progressive weakness of hip and shoulder muscles, Difficulty climbing stairs and rising from sitting, Shoulder weakness affecting overhead activities, Progressive waddling gait and increased fall risk, Calf pseudohypertrophy in some subtypes, among others. Approximately 1 per 14,500 to 1 per 123,000 people depending on geographic region; exact prevalence varies by subtype. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Limb-Girdle Muscular Dystrophy from ClinicalTrials.gov, with eligibility criteria translated into plain English. Patients can filter by trial phase and recruitment status, search by location, and use the Match Me tool to score trials against their profile. Research in Limb-Girdle Muscular Dystrophy is increasingly tailored to individual genetic subtypes, recognizing that different mutations require different therapeutic approaches. Gene therapy approaches designed for specific mutations, exon-skipping therapies, and gene editing technologies are all being tested for appropriate subtypes.

As of September 2026, Trial Friend's curated drug index does not include an FDA-approved treatment specific to Limb-Girdle Muscular Dystrophy. The Treatments section of this page checks FDA drug labels live and lists any approved drug whose label names the condition, and the trials listed below cover the investigational options.

Limb-Girdle Muscular Dystrophy is caused by variants in any of many genes, most often CAPN3, DYSF, FKRP, ANO5, SGCA and SGCG. More than 32 genes; CAPN3 and DYSF are the most common and most forms are recessive.

It follows autosomal dominant or recessive depending on gene inheritance. Approximately 1 per 14,500 to 1 per 123,000 people depending on geographic region; exact prevalence varies by subtype. A multigene panel identifies the cause in most families.

Yes. Limb-Girdle Muscular Dystrophy can be caused by variants in many different genes (CAPN3, DYSF, FKRP, ANO5, SGCA and SGCG are among the most common), so testing is usually a multigene panel or exome sequencing rather than one gene at a time. More than 32 genes; CAPN3 and DYSF are the most common and most forms are recessive.

It follows autosomal dominant or recessive depending on gene inheritance.

Knowing the exact gene matters: it decides which trials a patient qualifies for and which relatives should be tested. The labs currently offering the test are listed in the Genetic Testing section of this page, pulled live from the NIH Genetic Testing Registry. A genetic counselor can help interpret the result and decide which relatives should be tested.

Eligibility for Limb-Girdle Muscular Dystrophy clinical trials depends on factors like age, diagnosis, treatment history, and overall health. Each trial sets its own inclusion and exclusion criteria. Trial Friend translates these requirements from medical language into plain English so patients can review them more easily. The Match Me tool can score your profile against active trials to help identify studies that may be a fit.

Participating in a Limb-Girdle Muscular Dystrophy clinical trial typically involves scheduled visits, medical tests, and close monitoring by a research team. Depending on the study phase, you may receive an investigational treatment, a placebo, or the current standard of care. Trials may last from a few weeks to several years. Study participation is voluntary, and you can withdraw at any time.