TY - JOUR
T1 - Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1)
T2 - A GRASP Consortium Study
AU - GRASP-LGMD Consortium
AU - Hunn, Stephanie M.
AU - Alfano, Lindsay N.
AU - Jones, Aileen
AU - Butler, Amanda
AU - Lowes, Linda P.
AU - Iammarino, Megan A.
AU - Reash, Natalie F.
AU - Pietruszewski, Lindsay
AU - Sasidharan, Sandhya
AU - Currence, Melissa
AU - Statland, Jeffrey M.
AU - Strahler, Talia
AU - Will, Robert
AU - Wicklund, Matthew
AU - Dixon, Stacy
AU - Augsburger, Renee
AU - Mozaffar, Tahseen
AU - Laubscher, Katie M.
AU - Mockler, Shelley R.H.
AU - Mathews, Katherine D.
AU - Stinson, Nikia
AU - Leung, Doris G.
AU - Stark, Molly M.
AU - Horton, Rebecca A.
AU - Kang, Peter B.
AU - James, Meredith K.
AU - Clause, Amanda
AU - Weihl, Conrad C.
AU - Johnson, Nicholas E.
N1 - Publisher Copyright:
© 2025 The Author(s). Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.
PY - 2025/6
Y1 - 2025/6
N2 - Objective: Identifying functional measures that are both valid and reliable in the limb girdle muscular dystrophy (LGMD) population is critical for quantifying the level of functional impairment related to disease progression in order to establish clinical trial readiness in the context of anticipated therapeutic trials. Methods: Through the Genetic Resolution and Assessments Solving Phenotypes in LGMD (GRASP-LGMD) Consortium, 42 subjects with LGMDR1 were enrolled in a 12-month natural history study across 11 international sites. Each subject completed a battery of clinical outcome assessments (COA), including the North Star Assessment for Limb Girdle-Type Dystrophies (NSAD), 10-m walk/run, and Performance of the Upper Limb (PUL), in addition to several patient-reported outcome measures (PROM). Results: In this baseline cross-sectional analysis, significant correlations were found between COAs and PROMs, with significant differences in the performance of assessments based on subjects' ambulatory status and genetic variant classification. Interpretation: The study has determined that the NSAD and other assessments are valid and reliable measures for quantifying the level of disease impairment in individuals with LGMDR1.
AB - Objective: Identifying functional measures that are both valid and reliable in the limb girdle muscular dystrophy (LGMD) population is critical for quantifying the level of functional impairment related to disease progression in order to establish clinical trial readiness in the context of anticipated therapeutic trials. Methods: Through the Genetic Resolution and Assessments Solving Phenotypes in LGMD (GRASP-LGMD) Consortium, 42 subjects with LGMDR1 were enrolled in a 12-month natural history study across 11 international sites. Each subject completed a battery of clinical outcome assessments (COA), including the North Star Assessment for Limb Girdle-Type Dystrophies (NSAD), 10-m walk/run, and Performance of the Upper Limb (PUL), in addition to several patient-reported outcome measures (PROM). Results: In this baseline cross-sectional analysis, significant correlations were found between COAs and PROMs, with significant differences in the performance of assessments based on subjects' ambulatory status and genetic variant classification. Interpretation: The study has determined that the NSAD and other assessments are valid and reliable measures for quantifying the level of disease impairment in individuals with LGMDR1.
KW - limb girdle muscular dystrophy
KW - natural history
KW - outcome measures
UR - https://www.scopus.com/pages/publications/105005405445
U2 - 10.1002/acn3.70049
DO - 10.1002/acn3.70049
M3 - Article
C2 - 40237364
AN - SCOPUS:105005405445
SN - 2328-9503
VL - 12
SP - 1179
EP - 1186
JO - Annals of Clinical and Translational Neurology
JF - Annals of Clinical and Translational Neurology
IS - 6
ER -