A Gene Transfer Study to Evaluate the Safety, Tolerability and Efficacy of SRP-6004 in Ambulatory Participants With Limb Girdle Muscular Dystrophy, Type 2B/R2 (LGMD2B/R2, Dysferlin [DYSF] Related)

Phase 1

Active, not recruiting

• Conditions: Limb Girdle Muscular Dystrophy
• Interventions: Genetic: SRP-6004

• Registration Number: NCT05906251
• Lead Sponsor: Sarepta Therapeutics, Inc.

Brief Summary

The primary purpose of this study is to evaluate the safety of SRP-6004 administered by intravenous (IV) infusion in ambulatory participants with LGMD2B/R2 (DYSF related).

Detailed Description

Not available

Study Timeline

• Study Start: 2023-05-22
• Study First Submitted: 2023-06-07
• Study First Submitted QC: 2023-06-07
• Study First Posted: 2023-06-15
• Status Verified: 2024-08
• Last Update Submitted: 2024-08-16
• Last Update Posted: 2024-08-20
• Primary Completion: 2028-08-31
• Study Completion: 2028-08-31

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 2

Inclusion Criteria

• Possess 1 homozygous or 2 heterozygous pathogenic and/or likely pathogenic DYSF Deoxyribonucleic acid (DNA) gene mutations as documented prior to screening visits.
• Participants must be ambulatory per protocol specified criteria.
• Ability to cooperate with motor assessment testing.
• Has accessible and intact lower and upper extremity musculature for biopsy.
• Have adeno-associated virus rhesus serotype 74 (rAAVrh74) antibody titers < 1:400 (that is, not elevated) as determined by enzyme-linked immunosorbent assay (ELISA).

Exclusion Criteria

• Exposure to gene therapy, investigational medication, or other protocol-specified treatment within the protocol specified time limits.
• Abnormality in protocol-specified diagnostic evaluations or laboratory tests.
• Presence of any other clinically significant illness, medical condition, or requirement for chronic drug treatment that in the opinion of the Investigator creates unnecessary risk for gene transfer.

Note: Other inclusion or exclusion criteria could apply.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
SRP-6004	SRP-6004	Participants will receive single IV infusion of SRP-6004 on Day 1.

Primary Outcome Measures

Name	Time	Method
Number of Treatment-Emergent Adverse Events (AEs) and Treatment-Emergent Serious Adverse Events (SAEs)	Baseline up to Month 60

Secondary Outcome Measures

Name	Time	Method
Change from Baseline in Percent of Normal DYSF Protein Expression as Assessed by IF Percent DYSF Positive Fibers (PPF: DYSF)	Baseline, Day 90 and Month 15
Change from Baseline in Percent of Normal DYSF Protein Expression as Measured by Immunofluorescence (IF) Fiber Intensity	Baseline, Day 90 and Month 15
Change from Baseline in Percent of Normal DYSF Protein Expression as Measured by Western Blot	Baseline, Day 90 and Month 15

Trial Locations

Locations (1)

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