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
NCT ID: NCT04475926
Last Updated: 2025-11-06
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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ACTIVE_NOT_RECRUITING
205 participants
OBSERVATIONAL
2021-04-22
2030-09-05
Brief Summary
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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.
Detailed Description
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Conditions
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Keywords
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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LGMD2E/R4 Cohort
Participants with LGMD2E/R4 will be enrolled in this cohort. Enrollment will be capped according to age as follows: 4 to 7 years age range, 8 to 16 years age range, and ≥17 years age range through the course of the study.
No interventions assigned to this group
LGMD2D/R3 Cohort
Participants with LGMD2D/R3 will be enrolled in this cohort. Enrollment will be capped according to age as follows: 4 to 7 years age range, 8 to 16 years age range, and ≥17 years age range through the course of the study.
No interventions assigned to this group
LGMD2C/R5 Cohort
Participants with LGMD2C/R5 will be enrolled in this cohort. Enrollment will be capped according to age as follows: 4 to 7 years age range, 8 to 16 years age range, and ≥17 years age range through the course of the study.
No interventions assigned to this group
LGMD2A/R1 Cohort
Participants with LGMD2A/R1 will be enrolled in this cohort. Enrollment will be capped according to age as follows: 4 to 7 years age range, 8 to 16 years age range, and ≥17 years age range through the course of the study.
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
* Confirmed clinical and genetic diagnosis of LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, or LGMD2A/R1.
Exclusion Criteria
* 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.
4 Years
ALL
No
Sponsors
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Sarepta Therapeutics, Inc.
INDUSTRY
Responsible Party
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Principal Investigators
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Medical Director
Role: STUDY_DIRECTOR
Sarepta Therapeutics, Inc.
Locations
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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
Padua, 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
Institute of Genetic Medicine, International Centre for Life
Newcastle upon Tyne, , United Kingdom
Countries
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Other Identifiers
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SRP-LGMD-501-NHS
Identifier Type: -
Identifier Source: org_study_id