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

Phase 1

Active, not recruiting

• Conditions: Limb Girdle Muscular Dystrophy; Limb Girdle Muscular Dystrophy Type 2D/R3
• Interventions: Drug: SRP-9004

• Registration Number: NCT06747273
• Lead Sponsor: Sarepta Therapeutics, Inc.

Brief Summary

The primary objective of this study is to evaluate the safety of SRP-9004.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2024-12-18
• Study First Submitted QC: 2024-12-18
• Study First Posted: 2024-12-24
• Study Start: 2025-01-09
• Status Verified: 2025-04
• Last Update Submitted: 2025-04-25
• Last Update Posted: 2025-04-27
• Primary Completion: 2030-03-29
• Study Completion: 2030-03-29

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 4

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 & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
SRP-9004	SRP-9004	Participants will receive a single dose of SRP-9004 on Day 1.

Primary Outcome Measures

Name	Time	Method
Number of Participants with Treatment-emergent Adverse Events (TEAEs), Adverse Events of Special Interest (AESI) and Treatment-emergent Serious Adverse Events (SAEs)	Up to 60 months

Secondary Outcome Measures

Name	Time	Method
Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by FEV1 % Predicted	Baseline, Month 60
Change from Baseline Through Day 60 in Quantity of Alpha-sarcoglycan (α-SG) Protein Expression	Baseline, Day 60
Change from Baseline Through Month 24 in Quantity of α-SG Protein Expression	Baseline, Month 24
Change from Baseline Through Month 60 in North Star Assessment for Dysferlinopathy (NSAD) Total Score	Baseline, Month 60
Change from Baseline Through Month 60 in Performance of the Upper Limb (PUL) Version 2.0 Total Score	Baseline, Month 60
Change from Baseline Through Month 60 in Time to Rise From Floor	Baseline, Month 60
Change from Baseline Through Month 60 in Time to Ascend 4 Steps	Baseline, Month 60
Change from Baseline Through Month 60 in Time to Complete 10-meter Walk/Run (10MWR)	Baseline, Month 60
Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by Maximal Expiratory Pressure (MEP)	Baseline, Month 60
Change from Baseline Through Month 60 in Time to Complete 100-meter Walk/Run (100MWR)	Baseline, Month 60
Change from Baseline through Month 60 in Creatine Kinase (CK) Level	Baseline, Month 60
Time to Change of Disease Milestones (Loss of Ambulation)	Baseline, Month 60
Change from Baseline Through Month 60 in Skeletal Muscle Magnetic Resonance Imagining (MRI) Findings	Baseline, Month 60
Change from Baseline Through Month 60 in Wearable Device Stride Velocity 95% (SV95C) (Ambulatory Participants Only)	Baseline, Month 60
Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by Forced Vital Capacity (FVC)	Baseline, Month 60
Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by FVC Percentage (%) Predicted	Baseline, Month 60
Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by Forced Expiratory Volume in 1 Second (FEV1)	Baseline, Month 60
Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by Peak Expiratory Flow Rate (PEFR)	Baseline, Month 60
Change from Baseline Through Month 60 in Pulmonary Functions as Assessed by Maximal Inspiratory Pressure (MIP)	Baseline, Month 60

Trial Locations

Locations (2)

Nationwide Children's Hospital; 🇺🇸 Columbus, Ohio, United States

Children's Hospital of the King's Daughters; 🇺🇸 Norfolk, Virginia, United States