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: November 4, 2025
Sponsor: Sarepta Therapeutics, Inc.
Overall Status: Active - Not 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: 205
Study Start date:
April 22, 2021
Estimated Completion Date:
September 05, 2030

Study Description

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.

Connect with a study center

  • University Hospital Gent

    Gent, Oost-Vlaanderen 9000
    Belgium

    Site Not Available

  • University Hospital Gent

    Ghent 2797656, Oost-Vlaanderen 9000
    Belgium

    Site Not Available

  • UZ Leuven

    Leuven, Vlaams Brabant 3000
    Belgium

    Site Not Available

  • UZ Leuven

    Leuven 2792482, Vlaams Brabant 3000
    Belgium

    Site Not Available

  • Hôpital Universitaire des Enfants Reine Fabiola

    Brussels, 1020
    Belgium

    Site Not Available

  • Hôpital Universitaire des Enfants Reine Fabiola

    Brussels 2800866, 1020
    Belgium

    Site Not Available

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

    Porto Alegre, Rio Grande Do Sul 90035-903
    Brazil

    Site Not Available

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

    Porto Alegre 3452925, Rio Grande do Sul 3451133 90035-903
    Brazil

    Site Not Available

  • Children's Hospital - London Health Science Centre

    London, Ontario N6C 2R5
    Canada

    Completed

  • Children's Hospital - London Health Science Centre

    London 6058560, Ontario 6093943 N6C 2R5
    Canada

    Site Not Available

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

    Giessen 2920512, Hesse 2905330 35392
    Germany

    Site Not Available

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

    Giessen, Hessen 35392
    Germany

    Site Not Available

  • Universitätsklinikum Essen

    Essen, Nordrhein-Westfalen D-45147
    Germany

    Site Not Available

  • Universitätsklinikum Essen

    Essen 2928810, North Rhine-Westphalia 2861876 D-45147
    Germany

    Site Not Available

  • Istituto Giannina Gaslini

    Genova, Liguria 16147
    Italy

    Site Not Available

  • Istituto Giannina Gaslini

    Genoa 3176219, Liguria 3174725 16147
    Italy

    Site Not Available

  • Azienda Ospedale Università Padova

    Padova, Veneto 35129
    Italy

    Site Not Available

  • Azienda Ospedale Università Padova

    Padua 3171728, Veneto 3164604 35129
    Italy

    Site Not Available

  • Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

    Milan, 20122
    Italy

    Site Not Available

  • Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

    Milan 3173435, 20122
    Italy

    Site Not Available

  • Hospital Sant Joan de Déu Universidad de Barcelona

    Barcelona, 08950
    Spain

    Site Not Available

  • Hospital Sant Joan de Déu Universidad de Barcelona

    Barcelona 3128760, 08950
    Spain

    Site Not Available

  • Karolinska Universitetssjukhuset Solna

    Stockholm 2673730, Stockholm County 2673722 17176
    Sweden

    Site Not Available

  • Karolinska Universitetssjukhuset Solna

    Stockholm, Stockholms Lan 17176
    Sweden

    Site Not Available

  • Lokman Hekim Etlik Hastanesi

    Ankara, 06100
    Turkey

    Site Not Available

  • Lokman Hekim Etlik Hastanesi

    Ankara 323786, 06100
    Turkey (Türkiye)

    Site Not Available

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

    London, WC1N 1EH
    United Kingdom

    Site Not Available

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

    London 2643743, WC1N 1EH
    United Kingdom

    Site Not Available

  • Institute of Genetic Medicine, International Centre for Life

    Newcastle Upon Tyne, NE1 3BZ
    United Kingdom

    Site Not Available

  • Institute of Genetic Medicine, International Centre for Life

    Newcastle upon Tyne 2641673, NE1 3BZ
    United Kingdom

    Site Not Available

  • Barrow Neurological Institute

    Phoenix, Arizona 85013
    United States

    Site Not Available

  • Barrow Neurological Institute

    Phoenix 5308655, Arizona 5551752 85013
    United States

    Site Not Available

  • Arkansas Children's

    Little Rock, Arkansas 72202
    United States

    Site Not Available

  • Arkansas Children's

    Little Rock 4119403, Arkansas 4099753 72202
    United States

    Site Not Available

  • University of California San Diego

    La Jolla, California 92037
    United States

    Site Not Available

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

    Sacramento, California 95817
    United States

    Site Not Available

  • University of California San Diego

    La Jolla 5363943, California 5332921 92037
    United States

    Site Not Available

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

    Sacramento 5389489, California 5332921 95817
    United States

    Site Not Available

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

    Chicago, Illinois 60611
    United States

    Site Not Available

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

    Chicago 4887398, Illinois 4896861 60611
    United States

    Site Not Available

  • Nationwide Children's Hospital

    Columbus, Ohio 43205
    United States

    Site Not Available

  • Nationwide Children's Hospital

    Columbus 4509177, Ohio 5165418 43205
    United States

    Site Not Available

  • Oregon Health and Science University

    Portland, Oregon 97068
    United States

    Site Not Available

  • Oregon Health and Science University

    Portland 5746545, Oregon 5744337 97068
    United States

    Site Not Available

  • The Children's Hospital of Philadelphia

    Philadelphia, Pennsylvania 19104
    United States

    Site Not Available

  • The Children's Hospital of Philadelphia

    Philadelphia 4560349, Pennsylvania 6254927 19104
    United States

    Site Not Available

  • University of Texas Southwestern Medical Center

    Dallas, Texas 75201
    United States

    Site Not Available

  • University of Texas Southwestern Medical Center

    Dallas 4684888, Texas 4736286 75201
    United States

    Site Not Available

  • University of Utah Hospital

    Salt Lake City, Utah 84112
    United States

    Site Not Available

  • University of Utah Hospital

    Salt Lake City 5780993, Utah 5549030 84112
    United States

    Site Not Available

  • Children's Hospital of the King's Daughters

    Norfolk, Virginia 23507
    United States

    Site Not Available

  • Children's Hospital of the King's Daughters

    Norfolk 4776222, Virginia 6254928 23507
    United States

    Site Not Available

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