Trial Readiness and Endpoint Assessment in Limb Girdle Muscular Dystrophy Type R1 (CAPN3)

What this Trial Is About

Researchers are studying Limb Girdle Muscular Dystrophy type R1 (LGMDR1), also known as CAPN3, a genetic disorder causing progressive weakness in shoulder and hip muscles. This 24-month observational study aims to better understand the natural history of LGMDR1 and help prepare for future clinical trials by identifying important biomarkers and clinical outcome assessments. The study will enroll 100 participants and is sponsored by Virginia Commonwealth University. Participants in this study will not receive any treatment. The study involves multiple visits at Baseline Day 1, Baseline Day 2, Month 12, and Month 24. Approximately 80 participants will undergo MRI scans at selected imaging sites to assess muscle condition. Researchers will observe disease progression and validate tools to measure muscle function and fat fraction as potential biomarkers. During the study, participants will complete clinical evaluations and undergo MRI scans to track disease changes over time. Researchers will measure clinical outcomes using the North Star Assessment for Limb Girdle Muscular Dystrophy (NSAD) and muscle fat fraction as biomarkers. The study involves no treatment administration, and participant safety will be monitored throughout the 24-month period.

LGMD R1 Natural History Study