Skip to main content
OpenTrials
Active, Not Recruiting

NCT Number: NCT05876780

A Gene Transfer Single Dose Study to Evaluate the Safety, Tolerability and Efficacy of SRP-9003 in Non-Ambulatory and Ambulatory Participants With Limb Girdle Muscular Dystrophy, Type 2E/R4 (Beta-Sarcoglycan [β-SG] Deficiency)

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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Notify Me

Key information

Conditions

Limb Girdle Muscular Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Muscular Dystrophies, Limb-Girdle Musculoskeletal Diseases Nervous System Diseases Neuromuscular Diseases

Age range

4 year–50 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 1

Primary location

Nationwide Children's Hospital, Columbus, Ohio, United States

Loading trial locations.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Cohort 1 only: Ambulatory per protocol specified criteria. - Cohort 2 only: Non-ambulatory per protocol specified criteria and 4 to 50 years of age.
  • Possesses 1 homozygous or 2 heterozygous pathogenic and/or likely pathogenic β-sarcoglycan gene Deoxyribonucleic acid (DNA) (SGCB) gene mutations based on documented clinical findings.
  • Ability to cooperate with muscle testing.

Exclusion criteria

  • Presence of any other clinically significant illness or medical condition, including cardiac, pulmonary, hepatic, renal, hematologic, immunologic, neuromuscular (other than LGMD2E/R4), or behavioral disease, or infection or malignancy or concomitant illness or requirement for chronic drug treatment that in the opinion of the Investigator creates unnecessary risks for gene transfer or a medical condition or extenuating circumstance that, in the opinion of the Investigator, might compromise the participant's ability to comply with the protocol required testing or procedures or compromise the participant's wellbeing, safety, or clinical interpretability.
  • Exposure to gene therapy, investigational medication, or other protocol-specified treatment within the protocol specified time limits.
  • Any contraindication to use of corticosteroid.

Note: Other inclusion or exclusion criteria could apply.

Treatment and study plan

SRP-9003

Genetic

Single IV infusion of SRP-9003

Other names: scAAVrh74.MHCK7.hSGCB

Primary outcomes

  1. Number of Treatment-Emergent Adverse Events (AEs) and Treatment-Emergent Serious Adverse Events (SAEs)

    Time frame: Baseline up to Month 60

  2. Change from Baseline in β-SG Protein Expression Quantity Assessed by Immunofluorescence (IF) Fiber Intensity at Day 60

    Time frame: Baseline, Day 60

  3. Change from Baseline in β-SG Protein Expression Quantity Assessed by IF Percent Protein Fibers (PPF) at Day 60

    Time frame: Baseline, Day 60

  4. Change from Baseline in β-SG Protein Expression Quantity Assessed by Western Blot at Day 60

    Time frame: Baseline, Day 60

Secondary outcomes

  1. Change from Baseline in β-SG Protein Expression Quantity Assessed by IF Fiber Intensity at Month 24

    Time frame: Baseline, Month 24

  2. Change from Baseline in β-SG Protein Expression Quantity Assessed by IF Percent Protein Fibers (PPF) at Month 24

    Time frame: Baseline, Month 24

  3. Change from Baseline in β-SG Protein Expression Quantity Assessed by Western Blot at Month 24

    Time frame: Baseline, Month 24

  4. Change from Baseline in North Star Assessment for Dysferlinopathy (NSAD) at Month 60

    Time frame: Baseline, Month 60

  5. 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

    Time frame: Baseline, Month 60

  6. Change from Baseline in Performance of Upper Limb Version 2.0 (PUL 2.0) Score at Month 60

    Time frame: Baseline, Month 60

  7. Change from Baseline in Ability Captured Through Interactive Video Evaluation (ACTIVE) - Seated Workspace Volume Task at Month 60

    Time frame: Baseline, Month 60

  8. Cohort 1 (Ambulatory): Change from Baseline in Stride Velocity (95%) and Stair-climbing Velocity (95%) as Assessed by a Wearable Device at Month 60

    Time frame: Baseline, Month 60

  9. Cohort 1 (Ambulatory): Change from Baseline in Number of Stairs Climbed per Hour as Assessed by a Wearable Device at Month 60

    Time frame: Baseline, Month 60

  10. Cohort 1 (Ambulatory): Change from Baseline Distance Walked per Hour as Assessed by a Wearable Device at Month 60

    Time frame: Baseline, Month 60

  11. Cohort 1 (Ambulatory): Change from Baseline in Stride Length (95%) as Assessed by a Wearable Device at Month 60

    Time frame: Baseline, Month 60

  12. Change from Baseline in Upper Extremity Activity at Month 60

    Time frame: Baseline, Month 60

  13. Change from Baseline in Angular Wrist Velocity at Month 60

    Time frame: Baseline, Month 60

  14. Change from Baseline in Vector Genome Copies Using Droplet Digital Polymerase Chain Reaction (ddPCR) in the Target Muscle Tissue

    Time frame: Baseline, Day 60 and Month 24

Sponsors and collaborators

Lead sponsor

Sarepta Therapeutics, Inc.

Industry

Registry information

Official study title

A Multicenter, Open-label, Single-dose, Systemic Gene Transfer Study to Evaluate the Safety, Tolerability, and Efficacy of SRP-9003 on Subjects With Limb Girdle Muscular Dystrophy, Type 2E/R4 (β-Sarcoglycan Deficiency)

Important dates

Study start
2022
Primary completion
2028
Study completion
2028
First posted
May 25, 2023
Registry last updated
Feb 19, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.