Limb Girdle Muscular DystrophyPhase 1NCT05906251
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)
A Phase 1 study testing SRP-6004 in people with Limb Girdle Muscular Dystrophy, run by Sarepta Therapeutics, Inc. at 1 site in United States.
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). Read more about this study
- Who is it for?
- Ages 18 to 50 years
- Conditions the study is for
- Limb Girdle Muscular Dystrophy
- What is being tested?
- SRP-6004
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 2 participants
- Where
- 1 siteUnited States
- Study dates
- 22 May 2023to 13 Jun 2025
- Phase
- Phase 1
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 50 years
- All sexes
- No healthy volunteers
- Adult
Who may be able to join
- 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).
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
United States1 site
Nationwide Children's Hospital
Columbus, Ohio, 43205
About this study
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)
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
- Being tested
- SRP-6004
- Keywords
- Ambulatory, Gene-Delivery, LGMD2B/R2, Dysferlin, LGMD
- Medical subject headings
- Muscular Dystrophies, Limb-Girdle, Limb-girdle muscular dystrophy, type 2B
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
SRP-6004Genetic
Also called rAAVrh74.MHCK7.DYSF.DV
Single IV infusion of SRP-6004
| Study group | Role | What they receive |
|---|---|---|
| SRP-6004 | Experimental | Participants will receive single IV infusion of SRP-6004 on Day 1. Receives: Genetic: SRP-6004 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Treatment-Emergent Adverse Events (AEs) and Treatment-Emergent Serious Adverse Events (SAEs)
Measured: Baseline up to Month 60
Secondary outcomes (3)
Change from Baseline in Percent of Normal DYSF Protein Expression as Measured by Western Blot
Measured: Baseline, Day 90 and Month 15
Change from Baseline in Percent of Normal DYSF Protein Expression as Measured by Immunofluorescence (IF) Fiber Intensity
Measured: 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)
Measured: Baseline, Day 90 and Month 15
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Jun 2023
- Study start22 May 2023
- Primary completion13 Jun 2025
- Study completion13 Jun 2025
Why it stopped: Study is being terminated due to a business decision.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Limb Girdle Muscular DystrophyStudies of the same condition, open and under way.
- More trials run by Sarepta Therapeutics, Inc.The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 2 participants (actual)
Sponsor and investigators
- Lead sponsor
- Sarepta Therapeutics, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Medical Director, Study director, Sarepta Therapeutics, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05906251
- Sponsor's protocol ID
- SRP-6004-102
- Status last verified
- Aug 2025
- First submitted
- 7 Jun 2023
- Last updated
- 4 Sep 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 4 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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)
- ClinicalTrials.gov ID
- NCT05906251
- Acronym / sponsor ID
- SRP-6004-102
- Conditions
- Limb Girdle Muscular Dystrophy
- Keywords
- Ambulatory, Gene-Delivery, LGMD2B/R2, Dysferlin, LGMD
- Phase
- Phase 1
- Study type
- Interventional
- Recruitment status
- TerminatedReason stopped: Study is being terminated due to a business decision.
- Enrolment
- 2 participants (actual)
- Lead sponsor
- Sarepta Therapeutics, Inc.Industry (pharma, biotech, devices)
- Study start
- 22 May 2023 (actual)
- Primary completion
- 13 Jun 2025 (actual)
- Study completion
- 13 Jun 2025 (actual)
- First posted
- 15 Jun 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| SRP-6004 | Experimental | Genetic: SRP-6004Participants will receive single IV infusion of SRP-6004 on Day 1. |
Who may qualify
- Ages
- 18 to 50 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult
Key inclusion criteria (5 listed)
- 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).
Key exclusion criteria (4 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| SRP-6004Also: rAAVrh74.MHCK7.DYSF.DVSingle IV infusion of SRP-6004 | Genetic | SRP-6004 |
Primary outcome
Number of Treatment-Emergent Adverse Events (AEs) and Treatment-Emergent Serious Adverse Events (SAEs)
Time frame: Baseline up to Month 60
3 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
Results and safety
The study was stopped early (reason given: Study is being terminated due to a business decision.). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Sep 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Medical Director study director
Sarepta Therapeutics, Inc.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1 study testing SRP-6004 in people with Limb Girdle Muscular Dystrophy, run by Sarepta Therapeutics, Inc. at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 4 Sep 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study was stopped early (reason given: Study is being terminated due to a business decision.). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of Treatment-Emergent Adverse Events (AEs) and Treatment-Emergent Serious Adverse Events (SAEs) (time frame: Baseline up to Month 60). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 Sep 2025.