Shipshewana

Researchers are conducting a 24-month observational study involving 100 participants with Limb Girdle Muscular Dystrophy type R1 (LGMDR1), also known as CAPN3. LGMDR1 is a genetic disorder causing progressive muscle weakness and wasting affecting the shoulders and hips, leading to challenges in walking or maintaining employment. This type of muscular dystrophy is common in the United States and currently has no FDA-approved treatments, though emerging gene therapies and regenerative approaches are under development. The study aims to improve clinical trial readiness by identifying biomarkers and validating clinical outcome assessments for future drug approval. Participants will not receive any treatment during the study. Study visits will take place at baseline (Day 1 and Day 2), then at 12 months and 24 months. A subset of 80 participants will have magnetic resonance (MR) scans performed at selected imaging sites. The study will monitor disease progression and gather data through these visits to assist in designing better clinical trials for LGMDR1. Throughout the study, participants will undergo clinical evaluations and MR imaging to assess muscle condition and function. Researchers will validate the North Star Assessment for Limb Girdle Muscular Dystrophy (NSAD) as a clinical outcome tool over the 24-month period. Safety and ability to participate will be monitored, with study involvement lasting the full 24 months to collect comprehensive natural history data.