A Gene Transfer Single Dose Study to Evaluate the Safety, Tolerability and Efficacy of SRP-9003 in Non-Ambulatory and Ambulatory Participants With Limb Girdle Muscular Dystrophy, Type 2E/R4 (Beta-Sarcoglycan [β-SG] Deficiency)

Plain-language summary

The primary purpose of this Phase 1 study is to evaluate the safety of SRP-9003 (scAAVrh74.MHCK7.hSGCB) and to quantify beta-sarcoglycan (β-SG) expression in the skeletal muscle of participants with limb-girdle muscular dystrophy type 2E/R4. The study includes both ambulatory participants (Cohort 1) and non-ambulatory participants aged 4 to 50 years (Cohort 2). Participants must carry either one homozygous or two heterozygous pathogenic or likely pathogenic variants in the beta-sarcoglycan (SGCB) gene.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

Phase 1

Status

Active, not recruiting

Sponsor

Sarepta Therapeutics, Inc.

Intervention

SRP-9003 (scAAVrh74.MHCK7.hSGCB)

Start date

12/19/2022

Estimated completion

8/28/2028

Countries

United States

Locations

• Columbus, United States
• Memphis, United States

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Inclusion Criteria:

* Cohort 1 only: Ambulatory per protocol specified criteria. - Cohort 2 only: Non-ambulatory per protocol specified criteria and 4 to 50 years of age.
* Possesses 1 homozygous or 2 heterozygous pathogenic and/or likely pathogenic β-sarcoglycan gene Deoxyribonucleic acid (DNA) (SGCB) gene mutations based on documented clinical findings.
* Ability to cooperate with muscle testing.

Exclusion Criteria:

* Presence of any other clinically significant illness or medical condition, including cardiac, pulmonary, hepatic, renal, hematologic, immunologic, neuromuscular (other than LGMD2E/R4), or behavioral disease, or infection or malignancy or concomitant illness or requirement for chronic drug treatment that in the opinion of the Investigator creates unnecessary risks for gene transfer or a medical condition or extenuating circumstance 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.
* Exposure to gene therapy, investigational medication, or other protocol-specified treatment within the protocol specified time limits.
* Any contraindication to use of corticosteroid.

Note: Other inclusion or exclusion criteria could apply.