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NCT Number: NCT04475926

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

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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

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Key information

Conditions

Limb-girdle Muscular Dystrophy Cardiomyopathies Cardiovascular Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Heart Diseases Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Muscular Dystrophies, Limb-Girdle Musculoskeletal Diseases Nervous System Diseases Neuromuscular Diseases Respiration Disorders Respiratory Tract Diseases Sarcoglycanopathies

Age range

4 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

University Hospital Gent, Ghent, Oost-Vlaanderen, Belgium

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. NSAD Total Score

    Time frame: Baseline up to Month 60

  2. Time to Rise from the Floor

    Time frame: Baseline up to Month 60

  3. Time of 10-Meter Walk/Run [10MWR]

    Time frame: Baseline up to Month 60

  4. Time to Ascend 4 Steps

    Time frame: Baseline up to Month 60

  5. Ankle Range of Motion (ROM)

    Time frame: Baseline up to Month 60

  6. Dimension of the Performance of the Upper Limb (PUL)

    Time frame: Baseline up to Month 60

  7. Timed Up and Go (TUG)

    Time frame: Baseline up to Month 60

  8. Time of 100-Meter Walk/Run (100MWR)

    Time frame: Baseline up to Month 60

  9. Pulmonary Function Test: Forced Vital Capacity (FVC)

    Time frame: Baseline up to Month 60

Sponsors and collaborators

Lead sponsor

Sarepta Therapeutics, Inc.

Industry

Registry information

Official study title

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)

Important dates

Study start
2021
Primary completion
2030
Study completion
2030
First posted
Jul 17, 2020
Registry last updated
Nov 6, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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