StudyFinder
LGMD R1 Natural History Study
RECRUITING
12 years to 50 years old
Inclusion Criteria:
• 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.
Exclusion Criteria:
• 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.
Calpain-3 Deficiency Limb Girdle Muscular Dystrophy Type 2A, Limb Girdle Muscular Dystrophy, Limb Girdle Muscular Dystrophy Type R1, LGMD2A
LGMD, Limb Girdle Muscular Dystrophy, LGMD R1, LGMD2A, CAPN3