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Lookup NU author(s): Meredith JamesORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2026 The AuthorsIdentifying 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.
Author(s): Hunn SM, Findlay AR, Alfano LN, Jones A, Butler A, Lowes LP, Iammarino MA, Reash NF, Pietruszewski L, Sasidharan S, Currence M, Statland JM, Strahler T, Will R, Wicklund M, Dixon S, Augsburger R, Mozaffar T, Laubscher KM, Mockler SRH, Mathews KD, Stinson N, Leung DG, Stark MM, Horton RA, Kang PB, James MK, Clause A, Weihl CC, Johnson NE, GRASP-LGMD Consortium
Publication type: Article
Publication status: Published
Journal: Neuromuscular Disorders
Year: 2026
Volume: 63
Print publication date: 01/06/2026
Online publication date: 31/03/2026
Acceptance date: 24/03/2026
Date deposited: 21/04/2026
ISSN (print): 0960-8966
ISSN (electronic): 1873-2364
Publisher: Elsevier Ltd
URL: https://doi.org/10.1016/j.nmd.2026.106416
DOI: 10.1016/j.nmd.2026.106416
Data Access Statement: The data supporting the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.
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