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
Purpose
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.
Condition
- Limb-girdle Muscular Dystrophy
Eligibility
- Eligible Ages
- Over 4 Years
- Eligible Sex
- All
- Accepts Healthy Volunteers
- No
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
- Phase
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Prospective
Arm Groups
| Arm | Description | Assigned Intervention |
|---|---|---|
| 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. |
Recruiting Locations
Little Rock 4119403, Arkansas 4099753 72202
La Jolla 5363943, California 5332921 92037
Sacramento 5389489, California 5332921 95817
Chicago 4887398, Illinois 4896861 60611
312-227-2201
Columbus 4509177, Ohio 5165418 43205
Philadelphia 4560349, Pennsylvania 6254927 19104
Dallas 4684888, Texas 4736286 75201
Norfolk 4776222, Virginia 6254928 23507
More Details
- NCT ID
- NCT04475926
- Status
- Recruiting
- Sponsor
- Sarepta Therapeutics, Inc.
Study Contact
Sarepta Therapeutics Inc., For Clinical Trial Information, Select Option 41-888-SAREPTA (1-888-727-3782)
SareptAlly@sarepta.com