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)

Limb Girdle Muscular Dystrophy Clinical Trial

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)

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT05906251
• Other study ID #: SRP-6004-102
• Status: Active, not recruiting
• Phase: Phase 1
• Start date: May 22, 2023
• Est. completion date: August 31, 2028

Study information

• Verified date: November 2023
• Source: Sarepta Therapeutics, Inc.
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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).

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 2
• Est. completion date: August 31, 2028
• Est. primary completion date: August 31, 2028
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 50 Years

Eligibility

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.

Related Conditions & MeSH terms

• Limb Girdle Muscular Dystrophy
• Muscular Dystrophies

Intervention

Genetic:
• SRP-6004
Single IV infusion of SRP-6004

Locations

Country	Name	City	State
United States	Nationwide Children's Hospital	Columbus	Ohio

Sponsors (1)

Lead Sponsor	Collaborator
Sarepta Therapeutics, Inc.

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of Treatment-Emergent Adverse Events (AEs) and Treatment-Emergent Serious Adverse Events (SAEs)		Baseline up to Month 60
Secondary	Change from Baseline in Percent of Normal DYSF Protein Expression as Measured by Western Blot		Baseline, Day 90 and Month 24
Secondary	Change from Baseline in Percent of Normal DYSF Protein Expression as Measured by Immunofluorescence (IF) Fiber Intensity		Baseline, Day 90 and Month 24
Secondary	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