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Journey: A Global, Multicenter, Longitudinal Study of the Natural History of Subjects With Limb Girdle Muscular Dystrophy (LGMD) Type 2E (LGMD2E/R4), Type 2D (LGMD2D/R3), Type 2C (LGMD2C/R5), and Type 2A (LGMD2A/R1)
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.
LGMD Type 2A, 2C, and 2D cohorts are now closed. Enrollment in the LGMD Type 2E cohort is closed and participants will be followed for up to five years.
Age
4 - No limit years
Sex
ALL
Healthy Volunteers
No
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
Start Date
April 22, 2021
Primary Completion Date
September 5, 2030
Completion Date
September 5, 2030
Last Updated
November 6, 2025
205
ACTUAL participants
Lead Sponsor
Sarepta Therapeutics, Inc.
NCT00390104
NCT01403402
Data Source & Attribution
This clinical trial information is sourced from ClinicalTrials.gov, a service of the U.S. National Institutes of Health.
Modifications: This data has been reformatted for display purposes. Eligibility criteria have been parsed into inclusion/exclusion sections. Location data has been geocoded to enable distance-based search. For the authoritative and most current information, please visit ClinicalTrials.gov.
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