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.
Limb-girdle Muscular Dystrophy
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.
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
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Barrow Neurological Institute, Phoenix, Arizona, United States, 85013
Arkansas Children's, Little Rock, Arkansas, United States, 72202
University of California San Diego, La Jolla, California, United States, 92037
University of California, Davis Health Dept of PM&R, Sacramento, California, United States, 95817
Anne & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, United States, 60611
Nationwide Children's Hospital, Columbus, Ohio, United States, 43205
Oregon Health and Science University, Portland, Oregon, United States, 97068
The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States, 19104
University of Texas Southwestern Medical Center, Dallas, Texas, United States, 75201
University of Utah Hospital, Salt Lake City, Utah, United States, 84112
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
For general information about clinical research, read Learn About Studies.
4 Years to
ALL
No
Sarepta Therapeutics, Inc.,
Medical Director, STUDY_DIRECTOR, Sarepta Therapeutics, Inc.
2030-04-30