Natural history of limb girdle muscular dystrophy R1 (LGMDR1): a GRASP consortium study
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 (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.
Authors
- Nikia Stinson
- Amanda Clause (ORCID: https://orcid.org/0000-0002-2078-7280)
- Robert Will
- Molly M. Stark
- Talia R. Strahler
- M. Iammarino (ORCID: https://orcid.org/0000-0003-2800-3855)
- Lindsay N. Alfano (ORCID: https://orcid.org/0000-0002-2263-7569)
- Aileen Jones (ORCID: https://orcid.org/0009-0003-2882-3025)
- Natalie F. Reash (ORCID: https://orcid.org/0000-0002-0573-9504)
- Stacy Dixon
- Renee Augsburger
- Katherine D. Mathews (ORCID: https://orcid.org/0000-0003-4160-0435)
- Peter B. Kang (ORCID: https://orcid.org/0000-0002-4270-7325)
- Katie M. Laubscher
- Lindsay Pietruszewski (ORCID: https://orcid.org/0000-0003-0691-5378)
- Sandhya Sasidharan
- Melissa Currence
- Matthew Wicklund (ORCID: https://orcid.org/0000-0003-1198-9363)
- Tahseen Mozaffar (ORCID: https://orcid.org/0000-0002-1230-0188)
- Stephanie Hunn (ORCID: https://orcid.org/0009-0006-0064-9178)
- Linda Lowes (ORCID: https://orcid.org/0000-0003-4206-0557)
- R. Horton
- Shelley R. H. Mockler
- Nicholas E. Johnson
- Conrad C. Weihl
- Amanda Butler
- Doris G. Leung
- Andrew R. Findlay
- Meredith K. James
- Jeffrey M. Statland
Institutions
- Kennedy Krieger Institute (US)
- Nationwide Children's Hospital (US)
- St. Catherine University (US)
- University of California, Los Angeles (US)
- The University of Texas at San Antonio Health Science Center (US)
- Virginia Commonwealth University (US)
- University of California, Irvine (US)
- Washington University in St. Louis (US)
- UCLA Medical Center (US)
- Newcastle upon Tyne Hospitals NHS Foundation Trust (GB)
- Centre for Life (GB)
- University of California, Irvine Medical Center (US)
- Los Angeles Medical Center (US)
- University of Iowa Stead Family Children’s Hospital (US)
- University of Kansas Medical Center (US)
- University of Minnesota Medical Center (US)
- The University of Texas at San Antonio (US)
- University of Colorado Anschutz Medical Campus (US)
Publication Details
- Journal
- Neuromuscular Disorders
- Published
- 2026-04-01
- DOI
- https://doi.org/10.1016/j.nmd.2026.106416
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Muscular Dystrophy Association
- National Institute of Nursing Research