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

Overview

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.

Full Title of Study: “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)”

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: March 31, 2028

Arms, Groups and Cohorts

  • 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.

Clinical Trial Outcome Measures

Primary Measures

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

Participating in This Clinical Trial

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.

Gender Eligibility: All

Minimum Age: 4 Years

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Sarepta Therapeutics, Inc.
  • Provider of Information About this Clinical Study
    • Sponsor
  • Overall Official(s)
    • Medical Director, Study Director, Sarepta Therapeutics, Inc.
  • Overall Contact(s)
    • Sarepta Therapeutics Inc., For Clinical Trial Information, Select Option 4, 1-888-SAREPTA (1-888-727-3782), SareptAlly@sarepta.com

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