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 1TerminatedNCT05906251

Sarepta Therapeutics, Inc.2 enrolled

Overview

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).

Study Type

INTERVENTIONAL

Allocation

Purpose

TREATMENT

Masking

NONE

Enrollment

Conditions

Limb Girdle Muscular Dystrophy

Interventions

SRP-6004GENETIC

Single IV infusion of SRP-6004

Eligibility

Sex: ALLMin age: 18 YearsMax age: 50 Years

Medical Language ↔ Plain English

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.

Locations (1)

Nationwide Children's Hospital

Columbus, Ohio, United States

Outcomes

Primary Outcomes

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

Time frame: Baseline up to Month 60

Secondary Outcomes

Change from Baseline in Percent of Normal DYSF Protein Expression as Measured by Western Blot

Time frame: Baseline, Day 90 and Month 15

Change from Baseline in Percent of Normal DYSF Protein Expression as Measured by Immunofluorescence (IF) Fiber Intensity

Time frame: Baseline, Day 90 and Month 15

Change from Baseline in Percent of Normal DYSF Protein Expression as Assessed by IF Percent DYSF Positive Fibers (PPF: DYSF)

Time frame: Baseline, Day 90 and Month 15

Data from ClinicalTrials.gov

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