AAV9 U7snRNA Gene Therapy to Treat Boys With DMD Exon 2 Duplications.
Last updated on July 2021Recruitment
- Recruitment Status
- Enrolling by invitation
- Estimated Enrollment
- Same as current
Summary
- Conditions
- Duchenne Muscular Dystrophy
- Type
- Interventional
- Phase
- Phase 1Phase 2
- Design
- Allocation: N/AIntervention Model: Single Group AssignmentIntervention Model Description: This trial will deliver the minimal efficacious dose as determined by preclinical studies and approved by the FDA to determine safety and target engagement.Masking: None (Open Label)Primary Purpose: Treatment
Participation Requirements
- Age
- Younger than 613 years
- Gender
- Only males
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, resultin...
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.
Tracking Information
- NCT #
- NCT04240314
- Collaborators
- Audentes Therapeutics
- Investigators
- Principal Investigator: Megan Waldrop, MD Nationwide Children's Hospital
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