Limb-Girdle Muscular Dystrophy, Type 2EPhase 1/2NCT03652259
Gene Delivery Clinical Trial of SRP-9003 (Bidridistrogene Xeboparvovec) for Participants With Limb-Girdle Muscular Dystrophy, Type 2E (LGMD2E) (Beta-Sarcoglycan Deficiency)
A Phase 1/2 study testing SRP-9003 in people with Limb-Girdle Muscular Dystrophy, Type 2E, run by Sarepta Therapeutics, Inc. at 1 site in United States.
Trial summary
The proposed clinical trial is the first-in-human, single-center, open-label, gene delivery study of SRP-9003 (bidridistrogene xeboparvovec) in participants with LGMD2E. Read more about this study
- Who is it for?
- Ages 4 to 15 years
- Conditions the study is for
- Limb-Girdle Muscular Dystrophy, Type 2E
- 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
- 1 siteUnited States
- Study dates
- 27 Oct 2018to 14 Jan 2025
- Phase
- Phase 1/2
- 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 4 to 15 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Males or females of any ethnic group
- β-SG deoxyribonucleic acid (DNA) gene mutations at both alleles
- Weakness demonstrated based on history of difficulty in running, jumping and climbing stairs
- A 100 meter walk/run (MWR) test result: ≥40 % of predicted for age-, height-, gender-, and weight-matched healthy controls at the screening visit
Who cannot join
- Active viral infection based on clinical observations
- Cardiac magnetic resonance imaging (MRI) determined left ventricular ejection fraction (LVEF) <40%
- Serological evidence of human immunodeficiency virus (HIV), hepatitis B, or hepatitis C infection
- Diagnosis of (or ongoing treatment for) an autoimmune disease
- Abnormal laboratory values considered clinically significant
- Concomitant illness or requirement for chronic drug treatment that, in the opinion of the Principal Investigator, creates unnecessary risks for gene transfer.
- Other inclusion/exclusion criteria 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: A Single-Center, Open-Label, Systemic Gene Delivery Study to Evaluate the Safety, Tolerability, and Efficacy of SRP-9003 Administered by Systemic Infusion in Subjects With LGMD2E (β-Sarcoglycan Deficiency)
The proposed clinical trial is the first-in-human, single-center, open-label, gene delivery study of SRP-9003 (bidridistrogene xeboparvovec) in participants with LGMD2E.
- Conditions
- Limb-Girdle Muscular Dystrophy, Type 2E
- Being tested
- SRP-9003
- Keywords
- limb girdle muscular dystrophy, LGMD2E, beta-sarcoglycan, gene transfer, adeno-associated virus, LGMDR4
- Medical subject headings
- Limb-girdle muscular dystrophy, type 2E, 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 LGMD2E vector, bidridistrogene xeboparvovec
SRP-9003 will be administered through a single systemic injection.
| Study group | Role | What they receive |
|---|---|---|
| Cohort 1: SRP-9003 | Experimental | Participants will receive a single intravenous (IV) infusion of SRP-9003 at a prespecified dose. Receives: Genetic: SRP-9003 |
| Cohort 2: SRP-9003 | Experimental | Participants will receive a single IV infusion of SRP-9003. Dose will be determined based on the findings from Cohort 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 7 years
Secondary outcomes (3)
Change From Baseline in Quantity of Beta-Sarcoglycan (β-SG) Protein Expression at Day 60, as Measured by Western Blot
β-SG gene expression levels will be quantified by Western Blot and compared between pre and post muscle biopsies.
Measured: Baseline, Day 60
Change From Baseline in Quantity of β-SG Protein Expression at Day 60, as Measured by Immunofluorescence
β-SG gene expression levels will be quantified by immunofluorescence and compared between pre and post muscle biopsies.
Measured: Baseline, Day 60
Change From Baseline in Quantity of β-SG Protein Expression at Day 60, as Measured by Immunohistochemistry Percent B-SG Positive Fibers
Measured: Baseline, Day 60
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Aug 2018
- Study start27 Oct 2018
- Primary completion14 Jan 2025
- Study completion14 Jan 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.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Limb-Girdle Muscular Dystrophy, Type 2EStudies 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 1/2
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Sequential
- 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
- NCT03652259
- Sponsor's protocol ID
- SRP-9003-101
- Other IDs
- IRB17-00253
- Status last verified
- Jan 2026
- First submitted
- 28 Aug 2018
- Last updated
- 20 Jan 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Publications
Mendell JR, Pozsgai ER, Lewis S, Griffin DA, Lowes LP, Alfano LN, Lehman KJ, Church K, Reash NF, Iammarino MA, Sabo B, Potter R, Neuhaus S, Li X, Stevenson H, Rodino-Klapac LR. Gene therapy with bidridistrogene xeboparvovec for limb-girdle muscular dystrophy type 2E/R4: phase 1/2 trial results. Nat Med. 2024 Jan;30(1):199-206. doi: 10.1038/s41591-023-02730-9. Epub 2024 Jan 4.
PubMed 38177855
Study at a glance
From the registry record, last updated by the sponsor on 20 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Single-Center, Open-Label, Systemic Gene Delivery Study to Evaluate the Safety, Tolerability, and Efficacy of SRP-9003 Administered by Systemic Infusion in Subjects With LGMD2E (β-Sarcoglycan Deficiency)
- ClinicalTrials.gov ID
- NCT03652259
- Acronym / sponsor ID
- SRP-9003-101
- Conditions
- Limb-Girdle Muscular Dystrophy, Type 2E
- Keywords
- limb girdle muscular dystrophy, LGMD2E, beta-sarcoglycan, gene transfer, adeno-associated virus, LGMDR4
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- TerminatedReason stopped: Study is being terminated due to a business decision.
- Enrolment
- 6 participants (actual)
- Lead sponsor
- Sarepta Therapeutics, Inc.Industry (pharma, biotech, devices)
- Study start
- 27 Oct 2018 (actual)
- Primary completion
- 14 Jan 2025 (actual)
- Study completion
- 14 Jan 2025 (actual)
- First posted
- 29 Aug 2018 (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 proposed clinical trial is the first-in-human, single-center, open-label, gene delivery study of SRP-9003 (bidridistrogene xeboparvovec) in participants with LGMD2E.
Study design
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Sequential
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Cohort 1: SRP-9003 | Experimental | Genetic: SRP-9003Participants will receive a single intravenous (IV) infusion of SRP-9003 at a prespecified dose. |
| Cohort 2: SRP-9003 | Experimental | Genetic: SRP-9003Participants will receive a single IV infusion of SRP-9003. Dose will be determined based on the findings from Cohort 1. |
Who may qualify
- Ages
- 4 to 15 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (4 listed)
- Males or females of any ethnic group
- β-SG deoxyribonucleic acid (DNA) gene mutations at both alleles
- Weakness demonstrated based on history of difficulty in running, jumping and climbing stairs
- A 100 meter walk/run (MWR) test result: ≥40 % of predicted for age-, height-, gender-, and weight-matched healthy controls at the screening visit
Key exclusion criteria (7 listed)
- Active viral infection based on clinical observations
- Cardiac magnetic resonance imaging (MRI) determined left ventricular ejection fraction (LVEF) <40%
- Serological evidence of human immunodeficiency virus (HIV), hepatitis B, or hepatitis C infection
- Diagnosis of (or ongoing treatment for) an autoimmune disease
- Abnormal laboratory values considered clinically significant
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: LGMD2E vector, bidridistrogene xeboparvovecSRP-9003 will be administered through a single systemic injection. | Genetic | Cohort 1: SRP-9003, Cohort 2: SRP-9003 |
Primary outcome
Number of Treatment-Emergent Adverse Events (AEs) and Treatment-Emergent Serious Adverse Events (SAEs)
Time frame: Baseline up to 7 years
3 secondary outcomes
Change From Baseline in Quantity of Beta-Sarcoglycan (β-SG) Protein Expression at Day 60, as Measured by Western Blot
Time frame: Baseline, Day 60
Change From Baseline in Quantity of β-SG Protein Expression at Day 60, as Measured by Immunofluorescence
Time frame: Baseline, Day 60
Change From Baseline in Quantity of β-SG Protein Expression at Day 60, as Measured by Immunohistochemistry Percent B-SG Positive Fibers
Time frame: Baseline, Day 60
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 20 Jan 2026.
- Derived from this study: PubMed 38177855Mendell JR, Pozsgai ER, Lewis S, Griffin DA, Lowes LP, Alfano LN, Lehman KJ, Church K, Reash NF, Iammarino MA, Sabo B, Potter R, Neuhaus S, Li X, Stevenson H, Rodino-Klapac LR. Gene therapy with bidridistrogene xeboparvovec for limb-girdle muscular dystrophy type 2E/R4: phase 1/2 trial results. Nat Med. 2024 Jan;30(1):199-206. doi: 10.1038/s41591-023-02730-9. Epub 2024 Jan 4.
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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 1/2 study testing SRP-9003 in people with Limb-Girdle Muscular Dystrophy, Type 2E, 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 4 inclusion and 7 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 20 Jan 2026. 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 combined 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.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
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 7 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03652259, which also lists 1 linked publication.
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 20 Jan 2026.