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)

Sponsor

Sarepta Therapeutics, Inc. (Industry)

Overall Status

Enrolling by invitation

CT.gov ID

NCT05906251

Collaborator

(none)

Enrollment

Location

Arm

63.3

Anticipated Duration (Months)

Patients Per Site Per Month

Study Details

Study Description

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).

Condition or Disease	Intervention/Treatment	Phase
Limb Girdle Muscular Dystrophy	Genetic: SRP-6004	Phase 1

Study Design

Study Type:

Interventional

Anticipated Enrollment :

2 participants

Allocation:

N/A

Intervention Model:

Single Group Assignment

Masking:

None (Open Label)

Primary Purpose:

Treatment

Official Title:

An Open-Label, Systemic Gene Transfer Study to Evaluate the Safety, Tolerability, and Efficacy of SRP 6004 Administered by Systemic Infusion in Ambulatory Subjects With Limb Girdle Muscular Dystrophy Type 2B/R2 (LGMD2B/R2, Dysferlin Related)

Actual Study Start Date :

May 22, 2023

Anticipated Primary Completion Date :

Aug 31, 2028

Anticipated Study Completion Date :

Aug 31, 2028

Arms and Interventions

Arm	Intervention/Treatment
Experimental: SRP-6004 Participants will receive single IV infusion of SRP-6004 on Day 1.	Genetic: SRP-6004 Single IV infusion of SRP-6004 Other Names: rAAVrh74.MHCK7.DYSF.DV

Arm

Intervention/Treatment

Experimental: SRP-6004

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

Genetic: SRP-6004

Single IV infusion of SRP-6004

Other Names:

rAAVrh74.MHCK7.DYSF.DV

Outcome Measures

Primary Outcome Measures

Number of Treatment-Emergent Adverse Events (AEs) and Treatment-Emergent Serious Adverse Events (SAEs) [Baseline up to Month 60]

Secondary Outcome Measures

Change from Baseline in Percent of Normal DYSF Protein Expression as Measured by Western Blot [Baseline, Day 90 and Month 24]
Change from Baseline in Percent of Normal DYSF Protein Expression as Measured by Immunofluorescence (IF) Fiber Intensity [Baseline, Day 90 and Month 24]
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 24]

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years to 50 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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.