Limb Girdle Muscular DystrophyPhase 1DISCOVERYNCT06747273
Study to Evaluate the Safety, Tolerability, and Efficacy of SRP-9004 Administered by Systemic Infusion in Limb Girdle Muscular Dystrophy Type 2D/R3 Participants in the United States
A Phase 1 study testing SRP-9004 in people with Limb Girdle Muscular Dystrophy and Limb Girdle Muscular Dystrophy Type 2D/R3, run by Sarepta Therapeutics, Inc. at 2 sites in United States.
Trial summary
The primary objective of this study is to evaluate the safety of SRP-9004. Read more about this study
- Who is it for?
- Ages 4 years and older
- Conditions the study is for
- Limb Girdle Muscular Dystrophy, Limb Girdle Muscular Dystrophy Type 2D/R3
- What is being tested?
- SRP-9004
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 4 participants
- Where
- 2 sitesUnited States
- Study dates
- 9 Jan 2025to 18 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 4 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Ambulatory participants, defined as able to walk without assistive aid, 10MWR <30 seconds, and NSAD total score ≥25; non-ambulatory participant, defined as 10MWR ≥30 seconds or unable to perform, and PUL 2.0 entry scale score ≥3.
- Ambulatory participants must be 4 to 20 years of age and the non-ambulatory participant must be ≥4 years of age.
- All participants must be ≤70 kilograms
- Possess 1 homozygous or 2 heterozygous pathogenic and/or likely pathogenic α-SG deoxyribonucleic acid (DNA) gene mutations as documented prior to screening.
- Able to cooperate with muscle testing.
- Participants must have adeno-associated virus (AAV) serotype Rh74 (rh74) antibody titers <1:400 (that is, not elevated) as determined by an enzyme-linked immunosorbent assay (ELISA).
Who cannot join
- Left ventricular ejection fraction <40% or clinical signs and/or symptoms of cardiomyopathy
- FVC ≤40% of predicted value and/or requirement for nocturnal ventilation
- Any other clinically significant illness, including neuromuscular (other than limb girdle muscular dystrophy type 2D/R3 [LGMD2D/R3]), 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.
- Other inclusion/exclusion criteria apply.
Trial locations and contacts
2 sites in 1 country.
United States2 sites
Nationwide Children's Hospital
Columbus, Ohio, 43205
Children's Hospital of the King's Daughters
Norfolk, Virginia, 23510
About this study
Official title: A Phase 1b, Multicenter, Single Dose Gene Transfer Study to Evaluate the Safety, Tolerability, and Efficacy of SRP-9004 Administered by Systemic Infusion in Limb Girdle Muscular Dystrophy Type 2D/R3 Subjects in the United States
The primary objective of this study is to evaluate the safety of SRP-9004.
- Being tested
- SRP-9004
- Keywords
- Limb Girdle Muscular Dystrophy Type 2D/R3, SRP-9004
- 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-9004Drug
Intravenous (IV) infusion.
| Study group | Role | What they receive |
|---|---|---|
| SRP-9004 | Experimental | Participants will receive a single dose of SRP-9004 on Day 1. Receives: Drug: SRP-9004 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Participants with Treatment-emergent Adverse Events (TEAEs), Adverse Events of Special Interest (AESI) and Treatment-emergent Serious Adverse Events (SAEs)
Measured: Up to 60 months
Secondary outcomes (19)
Change from Baseline Through Day 60 in Quantity of Alpha-sarcoglycan (α-SG) Protein Expression
Measured: Baseline, Day 60
Change from Baseline Through Month 24 in Quantity of α-SG Protein Expression
Measured: Baseline, Month 24
Change from Baseline Through Month 60 in North Star Assessment for Dysferlinopathy (NSAD) Total Score
Measured: Baseline, Month 60
Change from Baseline Through Month 60 in Performance of the Upper Limb (PUL) Version 2.0 Total Score
Measured: Baseline, Month 60
Change from Baseline Through Month 60 in Time to Rise From Floor
Measured: Baseline, Month 60
Change from Baseline Through Month 60 in Time to Ascend 4 Steps
Measured: Baseline, Month 60
Change from Baseline Through Month 60 in Time to Complete 10-meter Walk/Run (10MWR)
Measured: Baseline, Month 60
Change from Baseline Through Month 60 in Time to Complete 100-meter Walk/Run (100MWR)
Measured: Baseline, Month 60
Change from Baseline through Month 60 in Creatine Kinase (CK) Level
Measured: Baseline, Month 60
Time to Change of Disease Milestones (Loss of Ambulation)
Measured: Baseline, Month 60
Change from Baseline Through Month 60 in Skeletal Muscle Magnetic Resonance Imagining (MRI) Findings
Measured: Baseline, Month 60
Change from Baseline Through Month 60 in Wearable Device Stride Velocity 95% (SV95C) (Ambulatory Participants Only)
Measured: Baseline, Month 60
Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by Forced Vital Capacity (FVC)
Measured: Baseline, Month 60
Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by FVC Percentage (%) Predicted
Measured: Baseline, Month 60
Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by Forced Expiratory Volume in 1 Second (FEV1)
Measured: Baseline, Month 60
Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by FEV1 % Predicted
Measured: Baseline, Month 60
Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by Peak Expiratory Flow Rate (PEFR)
Measured: Baseline, Month 60
Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by Maximal Inspiratory Pressure (MIP)
Measured: Baseline, Month 60
Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by Maximal Expiratory Pressure (MEP)
Measured: Baseline, Month 60
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Dec 2024
- Study start9 Jan 2025
- Primary completion18 Jun 2025
- Study completion18 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
- 4 participants (actual)
Sponsor and investigators
- Lead sponsor
- Sarepta Therapeutics, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06747273
- Sponsor's protocol ID
- SRP-9004-102
- Acronym
- DISCOVERY
- Status last verified
- Aug 2025
- First submitted
- 18 Dec 2024
- 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
- A Phase 1b, Multicenter, Single Dose Gene Transfer Study to Evaluate the Safety, Tolerability, and Efficacy of SRP-9004 Administered by Systemic Infusion in Limb Girdle Muscular Dystrophy Type 2D/R3 Subjects in the United States
- ClinicalTrials.gov ID
- NCT06747273
- Acronym / sponsor ID
- DISCOVERY / SRP-9004-102
- Keywords
- Limb Girdle Muscular Dystrophy Type 2D/R3, SRP-9004
- Phase
- Phase 1
- Study type
- Interventional
- Recruitment status
- TerminatedReason stopped: Study is being terminated due to a business decision.
- Enrolment
- 4 participants (actual)
- Lead sponsor
- Sarepta Therapeutics, Inc.Industry (pharma, biotech, devices)
- Study start
- 9 Jan 2025 (actual)
- Primary completion
- 18 Jun 2025 (actual)
- Study completion
- 18 Jun 2025 (actual)
- First posted
- 24 Dec 2024 (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 objective of this study is to evaluate the safety of SRP-9004.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| SRP-9004 | Experimental | Drug: SRP-9004Participants will receive a single dose of SRP-9004 on Day 1. |
Who may qualify
- Ages
- 4 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (6 listed)
- Ambulatory participants, defined as able to walk without assistive aid, 10MWR <30 seconds, and NSAD total score ≥25; non-ambulatory participant, defined as 10MWR ≥30 seconds or unable to perform, and PUL 2.0 entry scale score ≥3.
- Ambulatory participants must be 4 to 20 years of age and the non-ambulatory participant must be ≥4 years of age.
- All participants must be ≤70 kilograms
- Possess 1 homozygous or 2 heterozygous pathogenic and/or likely pathogenic α-SG deoxyribonucleic acid (DNA) gene mutations as documented prior to screening.
- Able to cooperate with muscle testing.
Key exclusion criteria (4 listed)
- Left ventricular ejection fraction <40% or clinical signs and/or symptoms of cardiomyopathy
- FVC ≤40% of predicted value and/or requirement for nocturnal ventilation
- Any other clinically significant illness, including neuromuscular (other than limb girdle muscular dystrophy type 2D/R3 [LGMD2D/R3]), 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.
- Other inclusion/exclusion criteria 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-9004Intravenous (IV) infusion. | Drug | SRP-9004 |
Primary outcome
Number of Participants with Treatment-emergent Adverse Events (TEAEs), Adverse Events of Special Interest (AESI) and Treatment-emergent Serious Adverse Events (SAEs)
Time frame: Up to 60 months
19 secondary outcomes
Change from Baseline Through Day 60 in Quantity of Alpha-sarcoglycan (α-SG) Protein Expression
Time frame: Baseline, Day 60
Change from Baseline Through Month 24 in Quantity of α-SG Protein Expression
Time frame: Baseline, Month 24
Change from Baseline Through Month 60 in North Star Assessment for Dysferlinopathy (NSAD) Total Score
Time frame: Baseline, Month 60
Change from Baseline Through Month 60 in Performance of the Upper Limb (PUL) Version 2.0 Total Score
Time frame: Baseline, Month 60
Change from Baseline Through Month 60 in Time to Rise From Floor
Time frame: Baseline, Month 60
Change from Baseline Through Month 60 in Time to Ascend 4 Steps
Time frame: Baseline, Month 60
Change from Baseline Through Month 60 in Time to Complete 10-meter Walk/Run (10MWR)
Time frame: Baseline, Month 60
Change from Baseline Through Month 60 in Time to Complete 100-meter Walk/Run (100MWR)
Time frame: Baseline, Month 60
Change from Baseline through Month 60 in Creatine Kinase (CK) Level
Time frame: Baseline, Month 60
Time to Change of Disease Milestones (Loss of Ambulation)
Time frame: Baseline, Month 60
Change from Baseline Through Month 60 in Skeletal Muscle Magnetic Resonance Imagining (MRI) Findings
Time frame: Baseline, Month 60
Change from Baseline Through Month 60 in Wearable Device Stride Velocity 95% (SV95C) (Ambulatory Participants Only)
Time frame: Baseline, Month 60
Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by Forced Vital Capacity (FVC)
Time frame: Baseline, Month 60
Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by FVC Percentage (%) Predicted
Time frame: Baseline, Month 60
Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by Forced Expiratory Volume in 1 Second (FEV1)
Time frame: Baseline, Month 60
Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by FEV1 % Predicted
Time frame: Baseline, Month 60
Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by Peak Expiratory Flow Rate (PEFR)
Time frame: Baseline, Month 60
Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by Maximal Inspiratory Pressure (MIP)
Time frame: Baseline, Month 60
Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by Maximal Expiratory Pressure (MEP)
Time frame: Baseline, Month 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 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.
The record lists no contact. Use the official record to reach the sponsor.
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-9004 in people with Limb Girdle Muscular Dystrophy and Limb Girdle Muscular Dystrophy Type 2D/R3, 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 6 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 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?
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 Participants with Treatment-emergent Adverse Events (TEAEs), Adverse Events of Special Interest (AESI) and Treatment-emergent Serious Adverse Events (SAEs) (time frame: Up to 60 months). 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.