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
What this study involves
The registry does not currently label this study as recruiting. Ask about its status before planning a screening visit.
- Study type
- Interventional
- Phase
- Phase 1
- Age range
- 18 years - 50 years
- Sex eligible
- All sexes
- Healthy volunteers
- Not accepted
- Participants
- 2 Actual
These are starting points, not an eligibility decision. The research team must review the full requirements.
Study is being terminated due to a business decision.
About the research
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).
Who may be able to participate?
The list below is the sponsor’s full registry wording. It can include conditions, prior treatment, test results and other requirements. A match in search does not mean you qualify.
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.
Understand screeningTreatment, groups and participation
The registry may describe treatments and study duration without a complete visit calendar. Ask the study team for the exact schedule, procedures, risks, costs and alternatives. Keep your usual care plan unless your treating clinician tells you otherwise.
- Assignment
- Not applicable
- Masking
- No masking
SRP-6004
Participants will receive single IV infusion of SRP-6004 on Day 1.
Genetic: SRP-6004
SRP-6004 GENETIC
Single IV infusion of SRP-6004
What researchers are measuring
Outcome measures describe what is being studied. They are not proof that a treatment works.
Primary measures
Number of Treatment-Emergent Adverse Events (AEs) and Treatment-Emergent Serious Adverse Events (SAEs)
Time frame: Baseline up to Month 60
Not reported in this registry record.
Secondary measures
Change from Baseline in Percent of Normal DYSF Protein Expression as Measured by Western Blot
Time frame: Baseline, Day 90 and Month 15
Not reported in this registry record.
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
Not reported in this registry record.
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
Not reported in this registry record.
Review the complete result tables and limitations in the official record.
Open official results ↗Research locations (1)
The overall study status and a local site’s status can differ. Confirm that location’s availability before traveling.
1 locations
Nationwide Children's HospitalColumbus, Ohio, United StatesStatus unknown
Study team and timeline
- Lead sponsor
- Sarepta Therapeutics, Inc.
- Study start
- May 22, 2023 Actual
- Primary completion
- Jun 13, 2025 Actual
- Study completion
- Jun 13, 2025 Actual
- First posted
- Jun 15, 2023 Actual
- Last updated
- Nov 10, 2026 Actual
Official study contacts
No central contact is listed. Check the locations and the official record.
Official study 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)
Ask Wellness Clinical Research
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Source: ClinicalTrials.gov API v2. Information is submitted by sponsors and investigators. NLM does not approve the safety or science of all listed studies. Registry disclaimer.
Retrieved: Nov 12, 2026 · Last registry update: Nov 10, 2026