Key result
Participants with LGMDR1 demonstrated significant decline in functional assessments (100 m, NSAD, PUL, and 4SC) over 12 months, with a greater rate of decline in higher functioning individuals.
Observational (n=42)
Yes
A combination of clinical outcome assessments can effectively measure functional decline over 12 months in patients with LGMDR1, providing critical endpoints for future therapeutic trials.
Supports functional assessments as LGMDR1 trial endpoints; leaves open their sensitivity to therapeutic change.
Identifying clinical outcome assessments (COAs) that are able to detect change in functional abilities over time in the limb girdle muscular dystrophy (LGMD) population is critical for managing disease progression in addition to determining drug efficacy in the context of anticipated therapeutic trials. Through the Genetic Resolution and Assessments Solving Phenotypes in LGMD (GRASP-LGMD) Consortium, 42 participants with LGMDR1 were enrolled in a 12-month natural history study across 11 international sites. Each participant completed a battery of COAs, including the North Star Assessment for Limb Girdle-Type Muscular Dystrophies (NSAD), 100-meter timed test (100 m), Performance of the Upper Limb (PUL), and 4-Stair Climb (4SC) in addition to several patient-reported outcome measures (PROM) across three time points in this year-long study. Participants with LGMDR1 demonstrate significant decline in the 100 m, NSAD, PUL, and 4SC over a 12-month time period. The rate of decline was greater in those considered to be higher functioning (10-meter time <12 s) while genetic variant types did not appear to significantly influence the rate of decline in our cohort. A combination of COAs is determined to be the best approach at measuring functional change over time in patients with LGMDR1.
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Hunn et al. (2026) conducted an observational in Limb girdle muscular dystrophy R1 (LGMDR1) (n=42). LGMDR1 was evaluated on Functional change over time measured by NSAD, 100 m, PUL, and 4SC. Participants with LGMDR1 demonstrated significant decline in functional assessments (100 m, NSAD, PUL, and 4SC) over 12 months, with a greater rate of decline in higher functioning individuals.
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