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 · tracked via the Priya Life Science USA tracker

Sponsor

Sarepta Therapeutics, Inc.

Phase

Observational

Started

2021-04-22

Last updated

2025-11-06

Condition(s) studied

Limb-girdle Muscular Dystrophy

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

Sex

ALL

Min age

4 Years

Max age

—

Healthy volunteers

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.

Primary outcome measure(s)

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

Trial sites (26)

Facility	City	Region
Barrow Neurological Institute	Phoenix	Arizona
Arkansas Children's	Little Rock	Arkansas
University of California San Diego	La Jolla	California
University of California, Davis Health Dept of PM&R	Sacramento	California
Anne & Robert H. Lurie Children's Hospital of Chicago	Chicago	Illinois
Nationwide Children's Hospital	Columbus	Ohio
Oregon Health and Science University	Portland	Oregon
The Children's Hospital of Philadelphia	Philadelphia	Pennsylvania
University of Texas Southwestern Medical Center	Dallas	Texas
University of Utah Hospital	Salt Lake City	Utah
Children's Hospital of the King's Daughters	Norfolk	Virginia
University Hospital Gent	Ghent	Oost-Vlaanderen
UZ Leuven	Leuven	Vlaams Brabant
Hôpital Universitaire des Enfants Reine Fabiola	Brussels	Belgium
Hospital de Clinicas de Porto Alegre (HCPA) - PPDS	Porto Alegre	Rio Grande do Sul
Children's Hospital - London Health Science Centre	London	Ontario
Zentrum für Kinderheilkunde und Jugendmedizin Uniklinikum Giessen Marburg (UKGM), Standort Giessen	Giessen	Hesse
Universitätsklinikum Essen	Essen	North Rhine-Westphalia
Istituto Giannina Gaslini	Genoa	Liguria
Azienda Ospedale Università Padova	Padova	Veneto
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico	Milan	Italy
Hospital Sant Joan de Déu Universidad de Barcelona	Barcelona	Spain
Karolinska Universitetssjukhuset Solna	Stockholm	Stockholm County
Lokman Hekim Etlik Hastanesi	Ankara	Turkey (Türkiye)
UCL Institute of Child Health & Great Ormond Street Hospital for Children	London	United Kingdom
Institute of Genetic Medicine, International Centre for Life	Newcastle upon Tyne	United Kingdom

More Sarepta Therapeutics, Inc. trials in the USA

A Study to Compare Safety and Efficacy of High Doses of Eteplirsen in Participants With Duchenne Muscular Dystrophy (DMD) (MIS51ON) Active, not recruiting

A Trial to Learn More About an Experimental Gene Therapy Called Bidridistrogene Xeboparvovec (SRP-9003) as a Possible Treatment for Limb Girdle Muscular Dystrophy 2E/R4 Active, not recruiting

A Gene Transfer Single Dose Study to Evaluate the Safety, Tolerability and Efficacy of SRP-9003 in Non-Ambulatory and Ambulatory Participants With Limb Girdle Muscular Dystrophy, Type 2E/R4 (Beta-Sarcoglycan [β-SG] Deficiency) Active, not recruiting

A Long-term Observational Study Evaluating Eteplirsen, Golodirsen, or Casimersen in Routine Clinical Practice Enrolling by invitation

A Gene Transfer Therapy Study to Evaluate the Safety and Efficacy of Delandistrogene Moxeparvovec (SRP-9001) in Non-Ambulatory and Ambulatory Participants With Duchenne Muscular Dystrophy (DMD) Active, not recruiting

Other trials for the same condition

A Trial to Learn More About an Experimental Gene Therapy Called Bidridistrogene Xeboparvovec (SRP-9003) as a Possible Treatment for Limb Girdle Muscular Dystrophy 2E/R4 Active, not recruiting

Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT04475926 on ClinicalTrials.gov ↗ ← All trials in the USA