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The primary purpose of this study is to evaluate the safety of SRP-9003 and to quantify expression of β-SG in the skeletal muscle of participants with limb-girdle muscular dystrophy, type 2E/R4 (LGMD2E/R4). The study will include both ambulatory (Cohort 1) and non-ambulatory (Cohort 2) participants.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| SRP-9003 | Experimental | Participants will receive single IV infusion of SRP-9003 on Day 1. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| SRP-9003 | Genetic | Single IV infusion of SRP-9003 |
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| Measure | Description | Time Frame |
|---|---|---|
| Number of Treatment-Emergent Adverse Events (AEs) and Treatment-Emergent Serious Adverse Events (SAEs) | Baseline up to Month 60 | |
| Change from Baseline in β-SG Protein Expression Quantity Assessed by Immunofluorescence (IF) Fiber Intensity at Day 60 | Baseline, Day 60 | |
| Change from Baseline in β-SG Protein Expression Quantity Assessed by IF Percent Protein Fibers (PPF) at Day 60 | Baseline, Day 60 | |
| Change from Baseline in β-SG Protein Expression Quantity Assessed by Western Blot at Day 60 | Baseline, Day 60 |
| Measure | Description | Time Frame |
|---|---|---|
| Change from Baseline in β-SG Protein Expression Quantity Assessed by IF Fiber Intensity at Month 24 | Baseline, Month 24 | |
| Change from Baseline in β-SG Protein Expression Quantity Assessed by IF Percent Protein Fibers (PPF) at Month 24 | Baseline, Month 24 |
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Inclusion Criteria:
Exclusion Criteria:
Note: Other inclusion or exclusion criteria could apply.
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| Name | Affiliation | Role |
|---|---|---|
| Medical Director | Sarepta Therapeutics, Inc. | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Nationwide Children's Hospital | Columbus | Ohio | 43205 | United States | ||
| St. Jude Children's Research Hospital |
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| Change from Baseline in β-SG Protein Expression Quantity Assessed by Western Blot at Month 24 | Baseline, Month 24 |
| Change from Baseline in North Star Assessment for Dysferlinopathy (NSAD) at Month 60 | Baseline, Month 60 |
| Change From Baseline in Time to Rise From the Floor, Time to Complete 100 and 10 meter Walk/Run, and the Timed Stair Ascend 4 Steps Test | Baseline, Month 60 |
| Change from Baseline in Performance of Upper Limb Version 2.0 (PUL 2.0) Score at Month 60 | Baseline, Month 60 |
| Change from Baseline in Ability Captured Through Interactive Video Evaluation (ACTIVE) - Seated Workspace Volume Task at Month 60 | Baseline, Month 60 |
| Cohort 1 (Ambulatory): Change from Baseline in Stride Velocity (95%) and Stair-climbing Velocity (95%) as Assessed by a Wearable Device at Month 60 | Baseline, Month 60 |
| Cohort 1 (Ambulatory): Change from Baseline in Number of Stairs Climbed per Hour as Assessed by a Wearable Device at Month 60 | Baseline, Month 60 |
| Cohort 1 (Ambulatory): Change from Baseline Distance Walked per Hour as Assessed by a Wearable Device at Month 60 | Baseline, Month 60 |
| Cohort 1 (Ambulatory): Change from Baseline in Stride Length (95%) as Assessed by a Wearable Device at Month 60 | Baseline, Month 60 |
| Change from Baseline in Upper Extremity Activity at Month 60 | Baseline, Month 60 |
| Change from Baseline in Angular Wrist Velocity at Month 60 | Baseline, Month 60 |
| Change from Baseline in Vector Genome Copies Using Droplet Digital Polymerase Chain Reaction (ddPCR) in the Target Muscle Tissue | Baseline, Day 60 and Month 24 |
| Memphis |
| Tennessee |
| 38105 |
| United States |
| ID | Term |
|---|---|
| D049288 | Muscular Dystrophies, Limb-Girdle |
| ID | Term |
|---|---|
| D009136 | Muscular Dystrophies |
| D020966 | Muscular Disorders, Atrophic |
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
| D009468 | Neuromuscular Diseases |
| D009422 | Nervous System Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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