Natural History of Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study

Stephanie M. Hunn; Andrew R. Findlay; Lindsay N. Alfano; Aileen Jones; Amanda Butler; Linda P. Lowes; Megan A. Iammarino; Natalie F. Reash; Lindsay Pietruszewski; Sandhya Sasidharan; Melissa Currence; Jeffrey M. Statland; Talia Strahler; Robert Will; Matthew Wicklund; Stacy Dixon; Renee Augsburger; Tahseen Mozaffar; Katie M. Laubscher; Shelley R.H. Mockler; Katherine D. Mathews; Nikia Stinson; Doris G. Leung; Molly M. Stark; Rebecca A. Horton; Peter B. Kang; Meredith K. James; Amanda Clause; Conrad C. Weihl; Nicholas E. Johnson; GRASP-LGMD Consortium

doi:10.1016/j.nmd.2026.106416

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Natural History of Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study

Journal article

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Natural History of Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study

Stephanie M. Hunn, Andrew R. Findlay, Lindsay N. Alfano, Aileen Jones, Amanda Butler, Linda P. Lowes, Megan A. Iammarino, Natalie F. Reash, Lindsay Pietruszewski, Sandhya Sasidharan, …

Neuromuscular disorders : NMD, Vol.63, 106416

04/2026

DOI: 10.1016/j.nmd.2026.106416

PMID: 41962316

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Abstract

•Longitudinal analysis of a unique set of clinical outcome assessments and patient reported outcome measures in patients with Limb Girdle Muscular Dystrophy Type R1 (LGMDR1) over a 12-month time period.•The amount of time taken to complete the 10-Meter Walk/Run can be used to predict the expected rate of disease progression in patients with LGMDR1.•Clinical outcome assessments, such as the North Start Assessment for Limb Girdle-Type Muscular Dystrophies (NSAD), Performance of the Upper Limb (PUL), 100-Meter Timed Test and 4-Stair Climb appropriately capture meaningful functional decline in a 12-month period.•Comparison of variant subcategories within patients with LGMDR1 explore potential genotype-phenotype correlations, suggesting patients that are homozygous for two “null” variants present with symptom onset at an earlier age resulting in greater disease severity. 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 (100m), 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 100m, 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 seconds) 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.

Natural History

calpainopathy

Limb girdle muscular dystrophy

outcome measures

Details

Title: Subtitle: Natural History of Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study
Creators: Stephanie M. Hunn - Washington University in St. Louis
Andrew R. Findlay - Washington University in St. Louis
Lindsay N. Alfano - Nationwide Children's Hospital
Aileen Jones - Virginia Commonwealth University
Amanda Butler - Virginia Commonwealth University
Linda P. Lowes - Nationwide Children's Hospital
Megan A. Iammarino - The University of Texas at San Antonio Health Science Center
Natalie F. Reash - Nationwide Children's Hospital
Lindsay Pietruszewski - University of California, Los Angeles
Sandhya Sasidharan - University of Kansas Medical Center
Melissa Currence - University of Kansas Medical Center
Jeffrey M. Statland - University of Kansas Medical Center
Talia Strahler - University of Colorado Anschutz Medical Campus
Robert Will - University of Colorado Anschutz Medical Campus
Matthew Wicklund - The University of Texas at San Antonio Health Science Center
Stacy Dixon - University of Colorado Anschutz Medical Campus
Renee Augsburger - University of California, Irvine
Tahseen Mozaffar - University of California, Irvine
Katie M. Laubscher - University of Iowa
Shelley R.H. Mockler - University of Iowa
Katherine D. Mathews - University of Iowa
Nikia Stinson - Kennedy Krieger Institute
Doris G. Leung - Kennedy Krieger Institute
Molly M. Stark - University of Minnesota Medical Center
Rebecca A. Horton - St. Catherine University
Peter B. Kang - University of Minnesota Medical Center
Meredith K. James - Newcastle upon Tyne Hospitals NHS Foundation Trust
Amanda Clause - Washington University in St. Louis
Conrad C. Weihl - Washington University in St. Louis
Nicholas E. Johnson - Virginia Commonwealth University
GRASP-LGMD Consortium
Resource Type: Journal article
Publication Details: Neuromuscular disorders : NMD, Vol.63, 106416
DOI: 10.1016/j.nmd.2026.106416
PMID: 41962316
NLM abbreviation: Neuromuscul Disord
ISSN: 0960-8966
eISSN: 1873-2364
Publisher: Elsevier B.V
Language: English
Date published: 04/2026
Academic Unit: Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Physical Therapy and Rehabilitation Science; Neurology (Pediatrics)
Record Identifier: 9985152242802771

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