| Title: |
Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study |
| Authors: |
Hunn SM; 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 |
| Source: |
Annals of Clinical and Translational Neurology, 2025 |
| Publisher Information: |
John Wiley and Sons Inc |
| Publication Year: |
2025 |
| Collection: |
Newcastle University Library ePrints Service |
| Description: |
© 2025 The Author(s). Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.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. |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/pdf |
| Language: |
unknown |
| Relation: |
https://eprints.ncl.ac.uk/306054; https://eprints.ncl.ac.uk/fulltext.aspx?url=306054/ACD79FD6-0F65-43B4-A882-9635C095E27C.pdf&pub_id=306054 |
| Availability: |
https://eprints.ncl.ac.uk/306054 |
| Rights: |
https://creativecommons.org/licenses/by/4.0/ |
| Accession Number: |
edsbas.CD575240 |
| Database: |
BASE |