RecruitingNCT05618080
LGMD R1 Natural History Study
GRASP-01-003: Trial Readiness and Endpoint Assessment in LGMD R1
Sponsor
Virginia Commonwealth University
Enrollment
100 participants
Start Date
Jan 31, 2024
Study Type
OBSERVATIONAL
Conditions
Summary
This is a 24-month, observational study of 100 participants with Limb Girdle Muscular Dystrophy type R1, also known as CAPN3.
Eligibility
Min Age: 12 YearsMax Age: 50 Years
Inclusion Criteria4
- 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 Criteria5
- 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.
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Locations(12)
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NCT05618080
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