A Study of the Natural History of Participants With LGMD2E/R4, LGMD2D/R3, and LGMD2C/R5, ≥ 4 Years of Age, Who Are Managed in Routine Clinical Practice

Study Overview
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Brief Summary
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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), or Limb-girdle muscular dystrophy type 2C (LGMD2C/R5). 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.

Official Title
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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), and Type 2C (LGMD2C/R5)

Conditions
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Limb-girdle Muscular Dystrophy

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: - Male or female participant ≥ 4 years of age with confirmed genetic diagnosis of LGMD2E/R4, LGMD2D/R3, or LGMD2C/R5. 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.

Ages Eligible for Study
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Minimum Age: 4 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| LGMD2E/R4 Cohort<br>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<br>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<br>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. | |

What is the study measuring?
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Primary Outcome Measures

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

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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North Star Assessment for Dysferlinopathy (NSAD), Performance of Upper Limb (PUL), Pulmonary function tests (PFTs), Ambulatory, Non-Ambulatory, Limb-girdle, LGMD, sarcoglycanopathy, β -sarcoglycan, Muscular Dystrophy, α -sarcoglycan, γ -sarcoglycan, LGMD-2D/R3, LGMD-2E/R4, LGMD-2C/R5, Clinical Outcomes Assessment