A Study of the Natural History of Participants With LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, and LGMD2A/R1 ≥ 4 Years of Age, Who Are Managed in Routine Clinical Practice
Running, not enrolling
Conditions studied: Limb-girdle Muscular Dystrophy
In brief
This study will follow participants who are screened and confirmed with a genetic diagnosis of Limb-girdle muscular dystrophy type 2E (LGMD2E/R4), Limb-girdle muscular dystrophy type 2D (LGMD2D/R3), Limb-girdle muscular dystrophy type 2C (LGMD2C/R5), or Limb-girdle muscular dystrophy type 2A (LGMD2A/R1). These enrolled participants will be followed to evaluate mobility and pulmonary function for up to 5 years after enrollment for participants with LGMD2C/R5, LGMD2D/R3, and LGMD2E/R4 with a North Star Assessment for Dysferlinopathy (NSAD) ≥ 25 at Baseline, up to 3 years for participants with LGMD2C/R5, LGMD2D/R3, and LGMD2E/R4 with a NSAD \< 25 at Baseline, and up to 3 years for participants with LGMD2A/R1. Additional participant data will be collected from the time the individual began experiencing LGMD symptoms to the present.
Key facts
- Study ID
- NCT04475926
- Run by
- Sarepta Therapeutics, Inc.
- People needed
- 205
- Starts
- 2021-04-22
- Expected to finish
- 2030-09-05
- Last updated by the study team
- 2025-11-06
Who can join
Age: 4 and older. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- Male or female participant ≥ 4 years of age who demonstrate symptoms of LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, or LGMD2A/R1 in the opinion of the investigator (eg, muscle weakness, loss of function, delayed milestones).
- Confirmed clinical and genetic diagnosis of LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, or LGMD2A/R1.
You may not qualify if…
- Demonstrates cognitive delay or impairment that could confound motor development, in the opinion of the Investigator.
- Has a medical condition, in the opinion of the Investigator, that might compromise participants ability to comply with study requirements.
- Is participating in other interventional study(ies) at the time of enrollment in this study.
Where it is running
- Barrow Neurological Institute — Phoenix, Arizona, United States
- Arkansas Children's — Little Rock, Arkansas, United States
- University of California San Diego — La Jolla, California, United States
- University of California, Davis Health Dept of PM&R — Sacramento, California, United States
- Anne & Robert H. Lurie Children's Hospital of Chicago — Chicago, Illinois, United States
- Nationwide Children's Hospital — Columbus, Ohio, United States
- Oregon Health and Science University — Portland, Oregon, United States
- The Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States
- University of Texas Southwestern Medical Center — Dallas, Texas, United States
- University of Utah Hospital — Salt Lake City, Utah, United States
- Children's Hospital of the King's Daughters — Norfolk, Virginia, United States
- University Hospital Gent — Ghent, Oost-Vlaanderen, Belgium
- UZ Leuven — Leuven, Vlaams Brabant, Belgium
- Hôpital Universitaire des Enfants Reine Fabiola — Brussels, Belgium
- Hospital de Clinicas de Porto Alegre (HCPA) - PPDS — Porto Alegre, Rio Grande do Sul, Brazil
- Children's Hospital - London Health Science Centre — London, Ontario, Canada
- Zentrum für Kinderheilkunde und Jugendmedizin Uniklinikum Giessen Marburg (UKGM), Standort Giessen — Giessen, Hesse, Germany
- Universitätsklinikum Essen — Essen, North Rhine-Westphalia, Germany
- Istituto Giannina Gaslini — Genoa, Liguria, Italy
- Azienda Ospedale Università Padova — Padova, Veneto, Italy
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico — Milan, Italy
- Hospital Sant Joan de Déu Universidad de Barcelona — Barcelona, Spain
- Karolinska Universitetssjukhuset Solna — Stockholm, Stockholm County, Sweden
- Lokman Hekim Etlik Hastanesi — Ankara, Turkey (Türkiye)
- UCL Institute of Child Health & Great Ormond Street Hospital for Children — London, United Kingdom
Full record on ClinicalTrials.gov
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