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

Last updated: October 16, 2024
Sponsor: Sarepta Therapeutics, Inc.
Overall Status: Active - Recruiting

Phase

N/A

Condition

Muscular Dystrophy

Treatment

N/A

Clinical Study ID

NCT04475926
SRP-LGMD-501-NHS
  • Ages > 4
  • All Genders

Study Summary

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.

Eligibility Criteria

Inclusion

Inclusion Criteria:

  • 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, muscleweakness, loss of function, delayed milestones).

  • Confirmed clinical and genetic diagnosis of LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, orLGMD2A/R1.

Exclusion

Exclusion Criteria:

  • Demonstrates cognitive delay or impairment that could confound motor development, inthe opinion of the Investigator.

  • Has a medical condition, in the opinion of the Investigator, that might compromiseparticipants ability to comply with study requirements.

  • Is participating in other interventional study(ies) at the time of enrollment inthis study.

Study Design

Total Participants: 241
Study Start date:
April 22, 2021
Estimated Completion Date:
April 30, 2030

Connect with a study center

  • University Hospital Gent

    Gent, Oost-Vlaanderen 9000
    Belgium

    Active - Recruiting

  • UZ Leuven

    Leuven, Vlaams Brabant 3000
    Belgium

    Active - Recruiting

  • Hôpital Universitaire des Enfants Reine Fabiola

    Brussels, 1020
    Belgium

    Active - Recruiting

  • Hospital de Clinicas de Porto Alegre (HCPA) - PPDS

    Porto Alegre, Rio Grande Do Sul 90035-903
    Brazil

    Active - Recruiting

  • Children's Hospital - London Health Science Centre

    London, Ontario N6C 2R5
    Canada

    Completed

  • Zentrum für Kinderheilkunde und Jugendmedizin Uniklinikum Giessen Marburg (UKGM), Standort Giessen

    Giessen, Hessen 35392
    Germany

    Active - Recruiting

  • Universitätsklinikum Essen

    Essen, Nordrhein-Westfalen D-45147
    Germany

    Active - Recruiting

  • Istituto Giannina Gaslini

    Genova, Liguria 16147
    Italy

    Active - Recruiting

  • Azienda Ospedale Università Padova

    Padova, Veneto 35129
    Italy

    Active - Recruiting

  • Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

    Milan, 20122
    Italy

    Active - Recruiting

  • Hospital Sant Joan de Déu Universidad de Barcelona

    Barcelona, 08950
    Spain

    Active - Recruiting

  • Karolinska Universitetssjukhuset Solna

    Stockholm, Stockholms Lan 17176
    Sweden

    Active - Recruiting

  • Lokman Hekim Etlik Hastanesi

    Ankara, 06100
    Turkey

    Active - Recruiting

  • UCL Institute of Child Health & Great Ormond Street Hospital for Children

    London, WC1N 1EH
    United Kingdom

    Active - Recruiting

  • Institute of Genetic Medicine, International Centre for Life

    Newcastle Upon Tyne, NE1 3BZ
    United Kingdom

    Active - Recruiting

  • Barrow Neurological Institute

    Phoenix, Arizona 85013
    United States

    Completed

  • Arkansas Children's

    Little Rock, Arkansas 72202
    United States

    Active - Recruiting

  • University of California San Diego

    La Jolla, California 92037
    United States

    Active - Recruiting

  • University of California, Davis Health Dept of PM&R

    Sacramento, California 95817
    United States

    Active - Recruiting

  • Anne & Robert H. Lurie Children's Hospital of Chicago

    Chicago, Illinois 60611
    United States

    Active - Recruiting

  • Nationwide Children's Hospital

    Columbus, Ohio 43205
    United States

    Active - Recruiting

  • Oregon Health and Science University

    Portland, Oregon 97068
    United States

    Completed

  • The Children's Hospital of Philadelphia

    Philadelphia, Pennsylvania 19104
    United States

    Active - Recruiting

  • University of Texas Southwestern Medical Center

    Dallas, Texas 75201
    United States

    Active - Recruiting

  • University of Utah Hospital

    Salt Lake City, Utah 84112
    United States

    Completed

  • Children's Hospital of the King's Daughters

    Norfolk, Virginia 23507
    United States

    Active - Recruiting

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