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

Recruiting

• Conditions: Limb-girdle Muscular Dystrophy

• Registration Number: NCT04475926
• Lead Sponsor: Sarepta Therapeutics, Inc.

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2020-07-14
• Study First Submitted QC: 2020-07-14
• Study First Posted: 2020-07-17
• Study Start: 2021-04-22
• Status Verified: 2024-10
• Last Update Submitted: 2024-10-16
• Last Update Posted: 2024-10-18
• Primary Completion: 2030-04-30
• Study Completion: 2030-04-30

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 241

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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
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

Trial Locations

Locations (26)

Barrow Neurological Institute; 🇺🇸 Phoenix, Arizona, United States

Arkansas Children's; 🇺🇸 Little Rock, Arkansas, United States

University of California San Diego; 🇺🇸 La Jolla, California, United States

University of California, Davis Health Dept of PM&R; 🇺🇸 Sacramento, California, United States

Anne & Robert H. Lurie Children's Hospital of Chicago; 🇺🇸 Chicago, Illinois, United States

Nationwide Children's Hospital; 🇺🇸 Columbus, Ohio, United States

Oregon Health and Science University; 🇺🇸 Portland, Oregon, United States

The Children's Hospital of Philadelphia; 🇺🇸 Philadelphia, Pennsylvania, United States

University of Texas Southwestern Medical Center; 🇺🇸 Dallas, Texas, United States

University of Utah Hospital; 🇺🇸 Salt Lake City, Utah, United States

Scroll for more (16 remaining)