Limb Girdle Muscular DystrophyPhase 1NCT05876780
A Gene Transfer Single Dose Study to Evaluate the Safety, Tolerability and Efficacy of SRP-9003 in Non-Ambulatory and Ambulatory Participants With Limb Girdle Muscular Dystrophy, Type 2E/R4 (Beta-Sarcoglycan [β-SG] Deficiency)
A Phase 1 study testing SRP-9003 in people with Limb Girdle Muscular Dystrophy, run by Sarepta Therapeutics, Inc. at 2 sites in United States.
Trial summary
The primary purpose of this study is to evaluate the safety of SRP-9003 and to quantify expression of β-SG in the skeletal muscle of participants with limb-girdle muscular dystrophy, type 2E/R4 (LGMD2E/R4). The study will include both ambulatory (Cohort 1) and non-ambulatory (Cohort 2) participants. Read more about this study
- Who is it for?
- Ages 4 to 50 years
- Conditions the study is for
- Limb Girdle Muscular Dystrophy
- What is being tested?
- SRP-9003
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 6 participants
- Where
- 2 sitesUnited States
- Study dates
- 19 Dec 2022to 28 Aug 2028
- Phase
- Phase 1
- Are there results?
- Not yet: the study is under way
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 4 to 50 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- Cohort 1 only: Ambulatory per protocol specified criteria. - Cohort 2 only: Non-ambulatory per protocol specified criteria and 4 to 50 years of age.
- Possesses 1 homozygous or 2 heterozygous pathogenic and/or likely pathogenic β-sarcoglycan gene Deoxyribonucleic acid (DNA) (SGCB) gene mutations based on documented clinical findings.
- Ability to cooperate with muscle testing.
Who cannot join
- Presence of any other clinically significant illness or medical condition, including cardiac, pulmonary, hepatic, renal, hematologic, immunologic, neuromuscular (other than LGMD2E/R4), or behavioral disease, or infection or malignancy or concomitant illness or requirement for chronic drug treatment that in the opinion of the Investigator creates unnecessary risks for gene transfer or a medical condition or extenuating circumstance that, in the opinion of the Investigator, might compromise the participant's ability to comply with the protocol required testing or procedures or compromise the participant's wellbeing, safety, or clinical interpretability.
- Exposure to gene therapy, investigational medication, or other protocol-specified treatment within the protocol specified time limits.
- Any contraindication to use of corticosteroid.
- Note: Other inclusion or exclusion criteria could apply.
Trial locations and contacts
2 sites in 1 country.
United States2 sites
Nationwide Children's Hospital
Columbus, Ohio, 43205
St. Jude Children's Research Hospital
Memphis, Tennessee, 38105
About this study
Official title: A Multicenter, Open-label, Single-dose, Systemic Gene Transfer Study to Evaluate the Safety, Tolerability, and Efficacy of SRP-9003 on Subjects With Limb Girdle Muscular Dystrophy, Type 2E/R4 (β-Sarcoglycan Deficiency)
The primary purpose of this study is to evaluate the safety of SRP-9003 and to quantify expression of β-SG in the skeletal muscle of participants with limb-girdle muscular dystrophy, type 2E/R4 (LGMD2E/R4). The study will include both ambulatory (Cohort 1) and non-ambulatory (Cohort 2) participants.
- Conditions
- Limb Girdle Muscular Dystrophy
- Being tested
- SRP-9003
- Keywords
- Ambulatory, Non-ambulatory, Gene-Delivery, LGMD2E/R4, β-SG deficiency, LGMD, Performance of Upper Limb (PUL)
- Medical subject headings
- Muscular Dystrophies, Limb-Girdle
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
SRP-9003Genetic
Also called scAAVrh74.MHCK7.hSGCB
Single IV infusion of SRP-9003
| Study group | Role | What they receive |
|---|---|---|
| SRP-9003 | Experimental | Participants will receive single IV infusion of SRP-9003 on Day 1. Receives: Genetic: SRP-9003 |
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
Change from Baseline in β-SG Protein Expression Quantity Assessed by Immunofluorescence (IF) Fiber Intensity at Day 60
Measured: Baseline, Day 60
Change from Baseline in β-SG Protein Expression Quantity Assessed by IF Percent Protein Fibers (PPF) at Day 60
Measured: Baseline, Day 60
Change from Baseline in β-SG Protein Expression Quantity Assessed by Western Blot at Day 60
Measured: Baseline, Day 60
Secondary outcomes (14)
Change from Baseline in β-SG Protein Expression Quantity Assessed by IF Fiber Intensity at Month 24
Measured: Baseline, Month 24
Change from Baseline in β-SG Protein Expression Quantity Assessed by IF Percent Protein Fibers (PPF) at Month 24
Measured: Baseline, Month 24
Change from Baseline in β-SG Protein Expression Quantity Assessed by Western Blot at Month 24
Measured: Baseline, Month 24
Change from Baseline in North Star Assessment for Dysferlinopathy (NSAD) at Month 60
Measured: Baseline, Month 60
Change From Baseline in Time to Rise From the Floor, Time to Complete 100 and 10 meter Walk/Run, and the Timed Stair Ascend 4 Steps Test
Measured: Baseline, Month 60
Change from Baseline in Performance of Upper Limb Version 2.0 (PUL 2.0) Score at Month 60
Measured: Baseline, Month 60
Change from Baseline in Ability Captured Through Interactive Video Evaluation (ACTIVE) - Seated Workspace Volume Task at Month 60
Measured: Baseline, Month 60
Cohort 1 (Ambulatory): Change from Baseline in Stride Velocity (95%) and Stair-climbing Velocity (95%) as Assessed by a Wearable Device at Month 60
Measured: Baseline, Month 60
Cohort 1 (Ambulatory): Change from Baseline in Number of Stairs Climbed per Hour as Assessed by a Wearable Device at Month 60
Measured: Baseline, Month 60
Cohort 1 (Ambulatory): Change from Baseline Distance Walked per Hour as Assessed by a Wearable Device at Month 60
Measured: Baseline, Month 60
Cohort 1 (Ambulatory): Change from Baseline in Stride Length (95%) as Assessed by a Wearable Device at Month 60
Measured: Baseline, Month 60
Change from Baseline in Upper Extremity Activity at Month 60
Measured: Baseline, Month 60
Change from Baseline in Angular Wrist Velocity at Month 60
Measured: Baseline, Month 60
Change from Baseline in Vector Genome Copies Using Droplet Digital Polymerase Chain Reaction (ddPCR) in the Target Muscle Tissue
Measured: Baseline, Day 60 and Month 24
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 May 2023
- Study start19 Dec 2022
- Primary completion28 Aug 2028 (estimated)
- Study completion28 Aug 2028 (estimated)
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
- 6 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
- NCT05876780
- Sponsor's protocol ID
- SRP-9003-102
- Status last verified
- Feb 2026
- First submitted
- 17 May 2023
- Last updated
- 19 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 19 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Multicenter, Open-label, Single-dose, Systemic Gene Transfer Study to Evaluate the Safety, Tolerability, and Efficacy of SRP-9003 on Subjects With Limb Girdle Muscular Dystrophy, Type 2E/R4 (β-Sarcoglycan Deficiency)
- ClinicalTrials.gov ID
- NCT05876780
- Acronym / sponsor ID
- SRP-9003-102
- Conditions
- Limb Girdle Muscular Dystrophy
- Keywords
- Ambulatory, Non-ambulatory, Gene-Delivery, LGMD2E/R4, β-SG deficiency, LGMD, Performance of Upper Limb (PUL)
- Phase
- Phase 1
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 6 participants (actual)
- Lead sponsor
- Sarepta Therapeutics, Inc.Industry (pharma, biotech, devices)
- Study start
- 19 Dec 2022 (actual)
- Primary completion
- 28 Aug 2028 (estimated)
- Study completion
- 28 Aug 2028 (estimated)
- First posted
- 25 May 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-9003 and to quantify expression of β-SG in the skeletal muscle of participants with limb-girdle muscular dystrophy, type 2E/R4 (LGMD2E/R4). The study will include both ambulatory (Cohort 1) and non-ambulatory (Cohort 2) participants.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| SRP-9003 | Experimental | Genetic: SRP-9003Participants will receive single IV infusion of SRP-9003 on Day 1. |
Who may qualify
- Ages
- 4 to 50 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (3 listed)
- Cohort 1 only: Ambulatory per protocol specified criteria. - Cohort 2 only: Non-ambulatory per protocol specified criteria and 4 to 50 years of age.
- Possesses 1 homozygous or 2 heterozygous pathogenic and/or likely pathogenic β-sarcoglycan gene Deoxyribonucleic acid (DNA) (SGCB) gene mutations based on documented clinical findings.
- Ability to cooperate with muscle testing.
Key exclusion criteria (4 listed)
- Presence of any other clinically significant illness or medical condition, including cardiac, pulmonary, hepatic, renal, hematologic, immunologic, neuromuscular (other than LGMD2E/R4), or behavioral disease, or infection or malignancy or concomitant illness or requirement for chronic drug treatment that in the opinion of the Investigator creates unnecessary risks for gene transfer or a medical condition or extenuating circumstance that, in the opinion of the Investigator, might compromise the participant's ability to comply with the protocol required testing or procedures or compromise the participant's wellbeing, safety, or clinical interpretability.
- Exposure to gene therapy, investigational medication, or other protocol-specified treatment within the protocol specified time limits.
- Any contraindication to use of corticosteroid.
- 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-9003Also: scAAVrh74.MHCK7.hSGCBSingle IV infusion of SRP-9003 | Genetic | SRP-9003 |
Primary outcome
Number of Treatment-Emergent Adverse Events (AEs) and Treatment-Emergent Serious Adverse Events (SAEs)
Time frame: Baseline up to Month 60
Change from Baseline in β-SG Protein Expression Quantity Assessed by Immunofluorescence (IF) Fiber Intensity at Day 60
Time frame: Baseline, Day 60
Change from Baseline in β-SG Protein Expression Quantity Assessed by IF Percent Protein Fibers (PPF) at Day 60
Time frame: Baseline, Day 60
Change from Baseline in β-SG Protein Expression Quantity Assessed by Western Blot at Day 60
Time frame: Baseline, Day 60
14 secondary outcomes
Change from Baseline in β-SG Protein Expression Quantity Assessed by IF Fiber Intensity at Month 24
Time frame: Baseline, Month 24
Change from Baseline in β-SG Protein Expression Quantity Assessed by IF Percent Protein Fibers (PPF) at Month 24
Time frame: Baseline, Month 24
Change from Baseline in β-SG Protein Expression Quantity Assessed by Western Blot at Month 24
Time frame: Baseline, Month 24
Change from Baseline in North Star Assessment for Dysferlinopathy (NSAD) at Month 60
Time frame: Baseline, Month 60
Change From Baseline in Time to Rise From the Floor, Time to Complete 100 and 10 meter Walk/Run, and the Timed Stair Ascend 4 Steps Test
Time frame: Baseline, Month 60
Change from Baseline in Performance of Upper Limb Version 2.0 (PUL 2.0) Score at Month 60
Time frame: Baseline, Month 60
Change from Baseline in Ability Captured Through Interactive Video Evaluation (ACTIVE) - Seated Workspace Volume Task at Month 60
Time frame: Baseline, Month 60
Cohort 1 (Ambulatory): Change from Baseline in Stride Velocity (95%) and Stair-climbing Velocity (95%) as Assessed by a Wearable Device at Month 60
Time frame: Baseline, Month 60
Cohort 1 (Ambulatory): Change from Baseline in Number of Stairs Climbed per Hour as Assessed by a Wearable Device at Month 60
Time frame: Baseline, Month 60
Cohort 1 (Ambulatory): Change from Baseline Distance Walked per Hour as Assessed by a Wearable Device at Month 60
Time frame: Baseline, Month 60
Cohort 1 (Ambulatory): Change from Baseline in Stride Length (95%) as Assessed by a Wearable Device at Month 60
Time frame: Baseline, Month 60
Change from Baseline in Upper Extremity Activity at Month 60
Time frame: Baseline, Month 60
Change from Baseline in Angular Wrist Velocity at Month 60
Time frame: Baseline, Month 60
Change from Baseline in Vector Genome Copies Using Droplet Digital Polymerase Chain Reaction (ddPCR) in the Target Muscle Tissue
Time frame: Baseline, Day 60 and Month 24
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Feb 2026.
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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.
2 sites 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-9003 in people with Limb Girdle Muscular Dystrophy, run by Sarepta Therapeutics, Inc. at 2 sites 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 3 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: under way, not looking for participants, as of the sponsor's last update on 19 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites 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?
This study is still under way. Results are not available in the source record yet.
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). The study lists 4 primary outcomes in all. 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 19 Feb 2026.