GRASP-01-003: Trial Readiness and Endpoint Assessment in LGMD R1
Virginia Commonwealth University
Summary
This is a 24-month, observational study of 100 participants with Limb Girdle Muscular Dystrophy type R1, also known as CAPN3.
Description
Limb girdle muscular dystrophies (LGMD) are a group of over 30 heterogenous genetic disorders which have in common a pattern of weakness affecting proximal muscles of the shoulders and hips. LGMD type R1 (LGMDR1; also LGMD2A) is due to loss of function of the muscle structural gene calpain 3 (CAPN3) and causes progressive weakness and muscle wasting, which can lead to loss of ambulation or the ability to maintain a job. LGMDR1 is one of the most common LGMDs in the United States and has no FDA approved therapies but is amenable to gene replacement strategies, regenerative medicine approaches,…
Eligibility
- Age range
- 12–50 years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: 1. Age between 12-50 at enrollment 2. Clinically affected (defined as weakness on bedside evaluation in a pattern consistent with LGMDR1) 3. Genetic confirmation of LGMDR1 (presence of homozygous or compound heterozygous pathogenic mutations in CAPN3). 4. 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: 1. Have contraindicatio…
Locations (12)
- University of California, IrvineOrange, California
- University of Colorado Anschutz Medical CampusAurora, Colorado
- University of FloridaGainesville, Florida
- The Community Health Clinic, Inc.Shipshewana, Indiana
- University of Iowa Hospitals and ClinicsIowa City, Iowa
- University of Kansas Medical CenterKansas City, Kansas