AAV-F-U7-SnRNA

AAV-F-U7-SnRNA is an experimental gene therapy designed for the treatment of Neurofibromatosis type 1 (NF1), specifically targeting the recurrent pathogenic variant c.1466A>G (p.Y489C). This mutation creates a cryptic splice site (CSS) that leads to the loss of the tumor suppressor protein neurofibromin. The therapy utilizes an adeno-associated virus serotype F (AAV-F) vector to deliver a U7 small nuclear RNA (U7-SnRNA) construct. This construct expresses an optimized antisense sequence that masks the cryptic splice site, thereby restoring normal NF1 mRNA splicing and functional neurofibromin expression. Preclinical studies in humanized mouse models have demonstrated that intravenous administration of AAV-F-U7-SnRNA can normalize splicing in multiple tissues, including the brain and optic nerve, and significantly extend survival. The program is being developed through a collaboration involving the University of Alabama at Birmingham, Royal Holloway University of London, and the Pennington Biomedical Research Center.

Other names

AAV-F-SnRNAAAV-F-U7-SnRNA constructAAV-F-U-7-SnRNA constructAAV-F-U 7-SnRNA construct