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

March 26, 2024 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 3 years after enrollment. Additional participant data will be collected from the time the individual began experiencing LGMD symptoms to the present.

Study Overview

Status

Recruiting

Conditions

Study Type

Observational

Enrollment (Estimated)

225

Contacts and Locations

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

Study Contact

  • Name: Sarepta Therapeutics Inc., For Clinical Trial Information, Select Option 4
  • Phone Number: 1-888-SAREPTA (1-888-727-3782)
  • Email: SareptAlly@sarepta.com

Study Locations

  • Belgium
      • Brussels, Belgium, 1020
        • Active, not recruiting
        • Hôpital Universitaire des Enfants Reine Fabiola
    • Oost-Vlaanderen
      • Gent, Oost-Vlaanderen, Belgium, 9000
        • Active, not recruiting
        • University Hospital Gent
    • Vlaams Brabant
      • Leuven, Vlaams Brabant, Belgium, 3000
        • Active, not recruiting
        • UZ Leuven
  • Brazil
    • Rio Grande Do Sul
      • Porto Alegre, Rio Grande Do Sul, Brazil, 90035-903
        • Active, not recruiting
        • Hospital de Clinicas de Porto Alegre (HCPA) - PPDS
  • Canada
    • Ontario
      • London, Ontario, Canada, N6C 2R5
        • Completed
        • Children's Hospital - London Health Science Centre
  • Germany
    • Hessen
      • Giessen, Hessen, Germany, 35392
        • Active, not recruiting
        • Zentrum für Kinderheilkunde und Jugendmedizin Uniklinikum Giessen Marburg (UKGM), Standort Giessen
    • Nordrhein-Westfalen
      • Essen, Nordrhein-Westfalen, Germany, D-45147
        • Active, not recruiting
        • Universitätsklinikum Essen
  • Italy
      • Milan, Italy, 20122
        • Active, not recruiting
        • Fondazione Irccs Ca' Granda Ospedale Maggiore Policlinico
    • Liguria
      • Genova, Liguria, Italy, 16147
        • Active, not recruiting
        • Istituto Giannina Gaslini
    • Veneto
      • Padova, Veneto, Italy, 35129
        • Active, not recruiting
        • Azienda Ospedale Universita Padova
  • Spain
      • Barcelona, Spain, 08950
        • Active, not recruiting
        • Hospital Sant Joan de Déu Universidad de Barcelona
  • Sweden
    • Stockholms Lan
      • Stockholm, Stockholms Lan, Sweden, 17176
        • Active, not recruiting
        • Karolinska Universitetssjukhuset Solna
  • Turkey
      • Ankara, Turkey, 06100
        • Active, not recruiting
        • Lokman Hekim Etlik Hastanesi
  • United Kingdom
      • London, United Kingdom, WC1N 1EH
        • Active, not recruiting
        • UCL Institute of Child Health & Great Ormond Street Hospital for Children
      • Newcastle Upon Tyne, United Kingdom, NE1 3BZ
        • Active, not recruiting
        • Institute of Genetic Medicine, International Centre for Life
  • United States
    • Arizona
      • Phoenix, Arizona, United States, 85013
        • Completed
        • Barrow Neurological Institute
    • Arkansas
      • Little Rock, Arkansas, United States, 72202
        • Recruiting
        • Arkansas Children's
        • Contact:
        • Principal Investigator:
          • Aravindhan Veerapandiyan, MD
    • California
      • La Jolla, California, United States, 92037
        • Active, not recruiting
        • University of California San Diego
      • Sacramento, California, United States, 95817
        • Active, not recruiting
        • University of California, Davis Health Dept of PM&R
    • Illinois
      • Chicago, Illinois, United States, 60611
        • Active, not recruiting
        • Anne & Robert H. Lurie Children's Hospital of Chicago
    • Ohio
      • Columbus, Ohio, United States, 43205
    • Oregon
      • Portland, Oregon, United States, 97068
        • Completed
        • Oregon Health and Science University
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • Active, not recruiting
        • The Children's Hospital of Philadelphia
    • Texas
      • Dallas, Texas, United States, 75201
        • Active, not recruiting
        • University of Texas Southwestern Medical Center
    • Utah
      • Salt Lake City, Utah, United States, 84112
        • Completed
        • University of Utah Hospital
    • Virginia

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 with confirmed 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
North Star Assessment for Dysferlinopathy (NSAD) Total Score
Time Frame: Baseline up to Month 36
Baseline up to Month 36
Time to Rise from the Floor
Time Frame: Baseline up to Month 36
Baseline up to Month 36
Time of 10-Meter Walk/Run [10MWR]
Time Frame: Baseline up to Month 36
Baseline up to Month 36
Time to Ascend 4 Steps
Time Frame: Baseline up to Month 36
Baseline up to Month 36
Dimension of the Performance of the Upper Limb (PUL)
Time Frame: Baseline up to Month 36
Baseline up to Month 36
Timed Up and Go (TUG)
Time Frame: Baseline up to Month 36
Baseline up to Month 36
Time of 100-Meter Walk/Run (100MWR)
Time Frame: Baseline up to Month 36
Baseline up to Month 36
Pulmonary Function Test: Forced Vital Capacity (FVC)
Time Frame: Baseline up to Month 36
Baseline up to Month 36

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)

March 31, 2028

Study Completion (Estimated)

March 31, 2028

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 (Actual)

March 28, 2024

Last Update Submitted That Met QC Criteria

March 26, 2024

Last Verified

March 1, 2024

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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