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

November 4, 2025 updated by: Sarepta Therapeutics, Inc.

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.

Study Overview

Status

Active, not recruiting

Conditions

Detailed 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.

Study Type

Observational

Enrollment (Actual)

205

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Belgium
      • Brussels, Belgium, 1020
        • Hopital Universitaire des Enfants Reine Fabiola
    • Oost-Vlaanderen
      • Ghent, Oost-Vlaanderen, Belgium, 9000
        • University Hospital Gent
    • Vlaams Brabant
      • Leuven, Vlaams Brabant, Belgium, 3000
        • UZ Leuven
  • Brazil
    • Rio Grande do Sul
      • Porto Alegre, Rio Grande do Sul, Brazil, 90035-903
        • Hospital de Clinicas de Porto Alegre (HCPA) - PPDS
  • Canada
    • Ontario
      • London, Ontario, Canada, N6C 2R5
        • Children's Hospital - London Health Science Centre
  • Germany
    • Hesse
      • Giessen, Hesse, Germany, 35392
        • Zentrum für Kinderheilkunde und Jugendmedizin Uniklinikum Giessen Marburg (UKGM), Standort Giessen
    • North Rhine-Westphalia
      • Essen, North Rhine-Westphalia, Germany, D-45147
        • Universitätsklinikum Essen
  • Italy
      • Milan, Italy, 20122
        • Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
    • Liguria
      • Genoa, Liguria, Italy, 16147
        • Istituto Giannina Gaslini
    • Veneto
      • Padua, Veneto, Italy, 35129
        • Azienda Ospedale Università Padova
  • Spain
      • Barcelona, Spain, 08950
        • Hospital Sant Joan de Déu Universidad de Barcelona
  • Sweden
    • Stockholm County
      • Stockholm, Stockholm County, Sweden, 17176
        • Karolinska Universitetssjukhuset Solna
  • Turkey (Türkiye)
      • Ankara, Turkey (Türkiye), 06100
        • Lokman Hekim Etlik Hastanesi
  • United Kingdom
      • London, United Kingdom, WC1N 1EH
        • UCL Institute of Child Health & Great Ormond Street Hospital for Children
      • Newcastle upon Tyne, United Kingdom, NE1 3BZ
        • Institute of Genetic Medicine, International Centre for Life
  • United States
    • Arizona
      • Phoenix, Arizona, United States, 85013
        • Barrow Neurological Institute
    • Arkansas
      • Little Rock, Arkansas, United States, 72202
        • Arkansas Children's
    • California
      • La Jolla, California, United States, 92037
        • University of California San Diego
      • Sacramento, California, United States, 95817
        • University of California, Davis Health Dept of PM&R
    • Illinois
      • Chicago, Illinois, United States, 60611
        • Anne & Robert H. Lurie Children's Hospital of Chicago
    • Ohio
      • Columbus, Ohio, United States, 43205
        • Nationwide Children's Hospital
    • Oregon
      • Portland, Oregon, United States, 97068
        • Oregon Health and Science University
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • The Children's Hospital of Philadelphia
    • Texas
      • Dallas, Texas, United States, 75201
        • University of Texas Southwestern Medical Center
    • Utah
      • Salt Lake City, Utah, United States, 84112
        • University of Utah Hospital
    • Virginia
      • Norfolk, Virginia, United States, 23507
        • Children's Hospital of The King's Daughters

Participation Criteria

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.

Eligibility Criteria

Ages Eligible for Study

4 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

The population for this study is ambulatory or non-ambulatory participants ≥ 4 years of age with confirmed genetic diagnosis of LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, or LGMD2A/R1.

Description

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, muscle weakness, loss of function, delayed milestones).
  • Confirmed clinical and genetic diagnosis of LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, or LGMD2A/R1.

Exclusion Criteria:

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
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.
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.
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.
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
NSAD Total Score
Time Frame: Baseline up to Month 60
Baseline up to Month 60
Time to Rise from the Floor
Time Frame: Baseline up to Month 60
Baseline up to Month 60
Time of 10-Meter Walk/Run [10MWR]
Time Frame: Baseline up to Month 60
Baseline up to Month 60
Time to Ascend 4 Steps
Time Frame: Baseline up to Month 60
Baseline up to Month 60
Ankle Range of Motion (ROM)
Time Frame: Baseline up to Month 60
Baseline up to Month 60
Dimension of the Performance of the Upper Limb (PUL)
Time Frame: Baseline up to Month 60
Baseline up to Month 60
Timed Up and Go (TUG)
Time Frame: Baseline up to Month 60
Baseline up to Month 60
Time of 100-Meter Walk/Run (100MWR)
Time Frame: Baseline up to Month 60
Baseline up to Month 60
Pulmonary Function Test: Forced Vital Capacity (FVC)
Time Frame: Baseline up to Month 60
Baseline up to Month 60

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sarepta Therapeutics, Inc.

Investigators

  • Study Director: Medical Director, Sarepta Therapeutics, Inc.

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

April 22, 2021

Primary Completion (Estimated)

September 5, 2030

Study Completion (Estimated)

September 5, 2030

Study Registration Dates

First Submitted

July 14, 2020

First Submitted That Met QC Criteria

July 14, 2020

First Posted (Actual)

July 17, 2020

Study Record Updates

Last Update Posted (Estimated)

November 6, 2025

Last Update Submitted That Met QC Criteria

November 4, 2025

Last Verified

November 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • SRP-LGMD-501-NHS

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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