Journal article
Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study
Annals of clinical and translational neurology, Vol.12(6), pp.1179-1186
06/2025
DOI: 10.1002/acn3.70049
PMCID: PMC12172116
PMID: 40237364
Abstract
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.
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).
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.
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.
Details
- Title: Subtitle
- Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study
- Creators
- Stephanie M Hunn - Washington University in St. Louis School of MedicineLindsay N Alfano - The Ohio State UniversityAileen Jones - Virginia Commonwealth UniversityAmanda Butler - Virginia Commonwealth UniversityLinda P Lowes - The Ohio State UniversityMegan A Iammarino - Nationwide Children's HospitalNatalie F Reash - Nationwide Children's HospitalLindsay Pietruszewski - Nationwide Children's HospitalSandhya Sasidharan - University of Kansas Medical CenterMelissa Currence - University of Kansas Medical CenterJeffrey M Statland - University of Kansas Medical CenterTalia Strahler - University of Colorado Anschutz Medical CampusRobert Will - University of Colorado Anschutz Medical CampusMatthew Wicklund - University of Colorado Anschutz Medical CampusStacy Dixon - University of Colorado Anschutz Medical CampusRenee Augsburger - University of California, IrvineTahseen Mozaffar - University of California, IrvineKatie M Laubscher - University of IowaShelley R H Mockler - Center for Disabilities and Development, University of Iowa Health Care Stead Family Children's Hospital, Iowa City, Iowa, USAKatherine D Mathews - University of IowaNikia Stinson - Kennedy Krieger InstituteDoris G Leung - Kennedy Krieger InstituteMolly M Stark - University of Minnesota Medical SchoolRebecca A Horton - University of Minnesota Medical SchoolPeter B Kang - University of Minnesota Medical SchoolMeredith K James - Newcastle UniversityAmanda Clause - Washington University in St. Louis School of MedicineConrad C Weihl - Washington University in St. Louis School of MedicineNicholas E Johnson - Virginia Commonwealth UniversityGRASP‐LGMD Consortium
- Resource Type
- Journal article
- Publication Details
- Annals of clinical and translational neurology, Vol.12(6), pp.1179-1186
- DOI
- 10.1002/acn3.70049
- PMID
- 40237364
- PMCID
- PMC12172116
- NLM abbreviation
- Ann Clin Transl Neurol
- ISSN
- 2328-9503
- eISSN
- 2328-9503
- Publisher
- WILEY
- Grant note
- GR000312600385728124 / National Institute of Health and Sciences Muscular Dystrophy Association K24 / National Institute of Health and Sciences Coalition to Cure Calpain-3 R21TR003184 / National Institute of Health and Sciences
- Language
- English
- Electronic publication date
- 04/16/2025
- Date published
- 06/2025
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Physical Therapy and Rehabilitation Science; Neurology (Pediatrics)
- Record Identifier
- 9984810939902771
Metrics
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