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)

NCT05906251 | Terminated Phase 1 DMC FDA Drug

• 1 other identifier: SRP-6004-102
• Study Type: interventional
• Target: 2
• Locations: 1 country
• Sites: 1

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).

Conditions

Limb Girdle Muscular Dystrophy

Keywords

Ambulatory; Gene-Delivery; LGMD2B/R2; Dysferlin; LGMD

Outcome Measures

Primary Outcomes (1)

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

  Baseline up to Month 60

Secondary Outcomes (3)

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

  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 Assessed by IF Percent DYSF Positive Fibers (PPF: DYSF)

  Baseline, Day 90 and Month 15

Study Arms (1)

SRP-6004

EXPERIMENTAL

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

Genetic: SRP-6004

Interventions

SRP-6004 GENETIC

Single IV infusion of SRP-6004

Also known as: rAAVrh74.MHCK7.DYSF.DV

SRP-6004

Eligibility Criteria

• Age: 18 Years - 50 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64)

You may qualify if:

• 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).

You may not qualify if:

• 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.

Sponsors & Collaborators

• Sarepta Therapeutics, Inc.: lead

Study Sites (1)

Nationwide Children's Hospital

Columbus, Ohio, 43205, United States

Location

MeSH Terms

Conditions

Muscular Dystrophies, Limb-Girdle; Limb-girdle muscular dystrophy, type 2B

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Medical Director

  Sarepta Therapeutics, Inc.

  STUDY DIRECTOR

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 7, 2023
• First Posted: June 15, 2023
• Study Start: May 22, 2023
• Primary Completion: June 13, 2025
• Study Completion: June 13, 2025
• Last Updated: September 4, 2025

Record last verified: 2025-08

Locations

US (1)