NCT04240314

AAV9 U7snRNA Gene Therapy to Treat Boys With DMD Exon 2 Duplications.

Phase I/IIa Systemic Gene Delivery Clinical Trial of scAAV9.U7.ACCA for Exon 2 Duplication-Associated Duchenne Muscular Dystrophy

• Status: Completed
• Phase: Phase 1 / Phase 2
• Study type: Interventional
• Enrollment: 3 (actual)
• Sponsor: Megan Waldrop · Academic / Other
• Sex: Male
• Age: 6 Months – 13 Years
• Healthy volunteers: Not accepted

Summary

Open-label, single dose clinical trial of scAAV9.U7.ACCA via peripheral limb vein injection for Duchenne muscular dystrophy boys who have a duplication of exon 2.

Detailed description

The proposed clinical trial is a systemic (intravenous) delivery of scAAV9.U7.ACCA for DMD patients with a duplication of exon 2 in the DMD gene. Preclinical data shows that the small nuclear RNA (snRNA) construct delivered by the scAAV9.U7.ACCA vector causes significant skipping of exon 2, resulting in exclusion of the exon from the mature messenger RNA (mRNA) with a high degree of efficiency, leading to mRNA containing only a single exon 2 (wild type \[WT\] mRNA) or no copies of exon 2 (Del2 mRNA). Translation of the wild-type mRNA results in entirely normal dystrophin protein, whereas translation of the Del2 mRNA via translational initiation of an internal ribosome entry sequence, or IRES) results in a highly functional isoform expressed in patients known to walk into their eighth decade. The study is designed as an open-label trial to assess safety and obtain preliminary efficacy data. scAAV9.U7.ACCA will be delivered to the systemic circulation via peripheral limb vein.

Conditions

• Duchenne Muscular Dystrophy

Interventions

Type	Name	Description
BIOLOGICAL	scAAV9.U7.ACCA	A single dose of scAAV9.U7.ACCA will be systemically delivered via a peripheral vein injection.

Timeline

• Start date: 2020-01-15
• Primary completion: 2023-11-13
• Completion: 2025-07-01
• First posted: 2020-01-27
• Last updated: 2025-09-11
• Results posted: 2025-09-11

Locations

1 site across 1 country: United States

Regulatory

• FDA-regulated drug study