LGMD R1 Natural History Study

Running, not enrolling

Conditions studied: Calpain-3 Deficiency Limb Girdle Muscular Dystrophy Type 2A, Limb Girdle Muscular Dystrophy, Limb Girdle Muscular Dystrophy Type R1, LGMD2A

In brief

This is a 24-month, observational study of 100 participants with Limb Girdle Muscular Dystrophy type R1, also known as CAPN3.

Key facts

Study ID: NCT05618080
Run by: Virginia Commonwealth University
People needed: 100
Starts: 2024-01-31
Expected to finish: 2028-08-01
Last updated by the study team: 2026-06-10

Who can join

Age: 12 and older, up to 50. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

Age between 12-50 at enrollment
Clinically affected (defined as weakness on bedside evaluation in a pattern consistent with LGMDR1)
Genetic confirmation of LGMDR1 (presence of homozygous or compound heterozygous pathogenic mutations in CAPN3).
Must be able to provide written informed consent and be willing and able to comply with all study requirements. Note: Adult participants must be able to provide consent themselves. Legally authorized representatives are not permitted to consent on behalf of adult participants.

You may not qualify if…

Have contraindications to MRI or MRS (e.g., non-MR compatible implanted medical devices or severe claustrophobia)
Non-ambulatory as defined by those who are not able to walk 10 meters without assistive devices (ankle foot orthotics excluded)
Positive pregnancy test at any timepoint during the trial
Have dominantly inherited CAPN3 mutations (LGMDD4)
Any other illness that would interfere with the ability to undergo safe testing or would interfere with interpretation of the results in the opinion of the site investigator.

Where it is running

University of California, Irvine — Orange, California, United States
University of Colorado Anschutz Medical Campus — Aurora, Colorado, United States
University of Florida — Gainesville, Florida, United States
The Community Health Clinic, Inc. — Shipshewana, Indiana, United States
University of Iowa Hospitals and Clinics — Iowa City, Iowa, United States
University of Kansas Medical Center — Kansas City, Kansas, United States
University of Minnesota, Department of Neurology — Minneapolis, Minnesota, United States
Washington University School of Medicine — St Louis, Missouri, United States
Nationwide Children's Hospital — Columbus, Ohio, United States

Full record on ClinicalTrials.gov

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