This study will follow participants who are screened and confirmed with a genetic diagnosis of Limb-girdle muscular dystrophy type 2E (LGMD2E/R4), Limb-girdle muscular dystrophy type 2D (LGMD2D/R3), Limb-girdle muscular dystrophy type 2C (LGMD2C/R5), or Limb-girdle muscular dystrophy type 2A (LGMD2A/R1). These enrolled participants will be followed to evaluate mobility and pulmonary function for up to 5 years after enrollment for participants with LGMD2C/R5, LGMD2D/R3, and LGMD2E/R4 with a North Star Assessment for Dysferlinopathy (NSAD) ≥ 25 at Baseline, up to 3 years for participants with LGMD2C/R5, LGMD2D/R3, and LGMD2E/R4 with a NSAD \< 25 at Baseline, and up to 3 years for participants with LGMD2A/R1. Additional participant data will be collected from the time the individual began experiencing LGMD symptoms to the present.
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
NSAD Total Score
Timeframe: Baseline up to Month 60
Time to Rise from the Floor
Timeframe: Baseline up to Month 60
Time of 10-Meter Walk/Run [10MWR]
Timeframe: Baseline up to Month 60
Time to Ascend 4 Steps
Timeframe: Baseline up to Month 60
Ankle Range of Motion (ROM)
Timeframe: Baseline up to Month 60
Dimension of the Performance of the Upper Limb (PUL)
Timeframe: Baseline up to Month 60
Timed Up and Go (TUG)
Timeframe: Baseline up to Month 60
Time of 100-Meter Walk/Run (100MWR)
Timeframe: Baseline up to Month 60
Pulmonary Function Test: Forced Vital Capacity (FVC)
Timeframe: Baseline up to Month 60