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 (DISCOVERY)

August 27, 2025 updated by: Sarepta Therapeutics, Inc.

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.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Terminated

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Interventional

Enrollment (Actual)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
4

Phase

Phase

The stage of a clinical trial studying a drug or biological product, based on definitions developed by the U.S. Food and Drug Administration (FDA). The phase is based on the study's objective, the number of participants, and other characteristics. There are five phases: Early Phase 1 (formerly listed as Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4. Not Applicable is used to describe trials without FDA-defined phases, including trials of devices or behavioral interventions.
  • Phase 1

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.
  • Name: Sarepta Therapeutics Inc., For Clinical Trial Information, Select Option 4
  • Phone Number: 1-888-SAREPTA (1-888-727-3782)
  • Email: SareptAlly@Sarepta.com

Study Locations

  • United States
    • Ohio
      • Columbus, Ohio, United States, 43205
        • Nationwide Children's Hospital
    • Virginia
      • Norfolk, Virginia, United States, 23510
        • Children's Hospital of The King's Daughters

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Description

Key Inclusion Criteria:

  • 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).

Key Exclusion Criteria:

  • 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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Treatment
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm

Participant Group / Arm

A group or subgroup of participants in a clinical trial that receives a specific intervention/treatment, or no intervention, according to the trial's protocol.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
Experimental: SRP-9004
Participants will receive a single dose of SRP-9004 on Day 1.
Drug: SRP-9004
Intravenous (IV) infusion.

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Time Frame
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
Up to 60 months

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Time Frame
Change from Baseline Through Day 60 in Quantity of Alpha-sarcoglycan (α-SG) Protein Expression
Time Frame: Baseline, Day 60
Baseline, Day 60
Change from Baseline Through Month 24 in Quantity of α-SG Protein Expression
Time Frame: Baseline, Month 24
Baseline, Month 24
Change from Baseline Through Month 60 in North Star Assessment for Dysferlinopathy (NSAD) Total Score
Time Frame: Baseline, Month 60
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
Baseline, Month 60
Change from Baseline Through Month 60 in Time to Rise From Floor
Time Frame: Baseline, Month 60
Baseline, Month 60
Change from Baseline Through Month 60 in Time to Ascend 4 Steps
Time Frame: Baseline, Month 60
Baseline, Month 60
Change from Baseline Through Month 60 in Time to Complete 10-meter Walk/Run (10MWR)
Time Frame: Baseline, Month 60
Baseline, Month 60
Change from Baseline Through Month 60 in Time to Complete 100-meter Walk/Run (100MWR)
Time Frame: Baseline, Month 60
Baseline, Month 60
Change from Baseline through Month 60 in Creatine Kinase (CK) Level
Time Frame: Baseline, Month 60
Baseline, Month 60
Time to Change of Disease Milestones (Loss of Ambulation)
Time Frame: Baseline, Month 60
Baseline, Month 60
Change from Baseline Through Month 60 in Skeletal Muscle Magnetic Resonance Imagining (MRI) Findings
Time Frame: Baseline, Month 60
Baseline, Month 60
Change from Baseline Through Month 60 in Wearable Device Stride Velocity 95% (SV95C) (Ambulatory Participants Only)
Time Frame: Baseline, Month 60
Baseline, Month 60
Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by Forced Vital Capacity (FVC)
Time Frame: Baseline, Month 60
Baseline, Month 60
Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by FVC Percentage (%) Predicted
Time Frame: Baseline, Month 60
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
Baseline, Month 60
Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by FEV1 % Predicted
Time Frame: Baseline, Month 60
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
Baseline, Month 60
Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by Maximal Inspiratory Pressure (MIP)
Time Frame: Baseline, Month 60
Baseline, Month 60
Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by Maximal Expiratory Pressure (MEP)
Time Frame: Baseline, Month 60
Baseline, Month 60

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Sarepta Therapeutics, Inc.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
January 9, 2025

Primary Completion (Actual)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
June 18, 2025

Study Completion (Actual)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
June 18, 2025

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
December 18, 2024

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
December 18, 2024

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
December 24, 2024

Study Record Updates

Last Update Posted (Estimated)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
September 4, 2025

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
August 27, 2025

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
August 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • SRP-9004-102

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

Yes

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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