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

Terminated

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Actual)

4

Phase

  • 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 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

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
Intervention / Treatment
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

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

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

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)

January 9, 2025

Primary Completion (Actual)

June 18, 2025

Study Completion (Actual)

June 18, 2025

Study Registration Dates

First Submitted

December 18, 2024

First Submitted That Met QC Criteria

December 18, 2024

First Posted (Actual)

December 24, 2024

Study Record Updates

Last Update Posted (Estimated)

September 4, 2025

Last Update Submitted That Met QC Criteria

August 27, 2025

Last Verified

August 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID 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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