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

NCT04475926 | Active Not Recruiting

• 1 other identifier: SRP-LGMD-501-NHS
• Study Type: observational
• Target: 205
• Locations: 10 countries
• Sites: 26

Brief 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.

Conditions

Limb-girdle Muscular Dystrophy

Keywords

North Star Assessment for Dysferlinopathy (NSAD); Performance of Upper Limb (PUL); Pulmonary function tests (PFTs); Ambulatory; Non-Ambulatory; Limb-girdle; LGMD; sarcoglycanopathy; β -sarcoglycan; Muscular Dystrophy; α -sarcoglycan; γ -sarcoglycan; LGMD-2D/R3; LGMD-2E/R4; LGMD-2C/R5; LGMD2A/R1; Clinical Outcomes Assessment

Outcome Measures

Primary Outcomes (9)

• NSAD Total Score

  Baseline up to Month 60

• Time to Rise from the Floor

  Baseline up to Month 60

• Time of 10-Meter Walk/Run [10MWR]

  Baseline up to Month 60

• Time to Ascend 4 Steps

  Baseline up to Month 60

• Ankle Range of Motion (ROM)

  Baseline up to Month 60

• Dimension of the Performance of the Upper Limb (PUL)

  Baseline up to Month 60

• Timed Up and Go (TUG)

  Baseline up to Month 60

• Time of 100-Meter Walk/Run (100MWR)

  Baseline up to Month 60

• Pulmonary Function Test: Forced Vital Capacity (FVC)

  Baseline up to Month 60

Study Arms (4)

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.

Eligibility Criteria

• Age: 4 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Sarepta Therapeutics, Inc.: lead

Study Sites (26)

Barrow Neurological Institute

Phoenix, Arizona, 85013, United States

Location

Arkansas Children's

Little Rock, Arkansas, 72202, United States

Location

University of California San Diego

La Jolla, California, 92037, United States

Location

University of California, Davis Health Dept of PM&R

Sacramento, California, 95817, United States

Location

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

Chicago, Illinois, 60611, United States

Location

Nationwide Children's Hospital

Columbus, Ohio, 43205, United States

Location

Oregon Health and Science University

Portland, Oregon, 97068, United States

Location

The Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location

University of Texas Southwestern Medical Center

Dallas, Texas, 75201, United States

Location

University of Utah Hospital

Salt Lake City, Utah, 84112, United States

Location

Children's Hospital of the King's Daughters

Norfolk, Virginia, 23507, United States

Location

University Hospital Gent

Ghent, Oost-Vlaanderen, 9000, Belgium

Location

UZ Leuven

Leuven, Vlaams Brabant, 3000, Belgium

Location

Hôpital Universitaire des Enfants Reine Fabiola

Brussels, 1020, Belgium

Location

Hospital de Clinicas de Porto Alegre (HCPA) - PPDS

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

Location

Children's Hospital - London Health Science Centre

London, Ontario, N6C 2R5, Canada

Location

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

Giessen, Hesse, 35392, Germany

Location

Universitätsklinikum Essen

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

Location

Istituto Giannina Gaslini

Genoa, Liguria, 16147, Italy

Location

Azienda Ospedale Università Padova

Padua, Veneto, 35129, Italy

Location

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

Milan, 20122, Italy

Location

Hospital Sant Joan de Déu Universidad de Barcelona

Barcelona, 08950, Spain

Location

Karolinska Universitetssjukhuset Solna

Stockholm, Stockholm County, 17176, Sweden

Location

Lokman Hekim Etlik Hastanesi

Ankara, 06100, Turkey (Türkiye)

Location

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

London, WC1N 1EH, United Kingdom

Location

Institute of Genetic Medicine, International Centre for Life

Newcastle upon Tyne, NE1 3BZ, United Kingdom

Location

MeSH Terms

Conditions

Muscular Dystrophies, Limb-Girdle; Sarcoglycanopathies; Muscular Dystrophies

Condition Hierarchy (Ancestors)

Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiration Disorders; Respiratory Tract Diseases; Cardiomyopathies; Heart Diseases; Cardiovascular Diseases

Study Officials

• Medical Director

  Sarepta Therapeutics, Inc.

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 14, 2020
• First Posted: July 17, 2020
• Study Start: April 22, 2021
• Primary Completion (Estimated): September 5, 2030
• Study Completion (Estimated): September 5, 2030
• Last Updated: November 6, 2025

Record last verified: 2025-11

Locations

CA (1); TU (1); GB (2); IT (3); US (11); ES (1); DE (2); BR (1); SE (1); BE (3)