IQSEC2 AAV #40

IQSEC2 AAV #40 is an adeno-associated virus (AAV) based gene therapy designed to treat disorders caused by mutations in the X-linked IQSEC2 gene, which encodes a guanine exchange factor for Arf6. Mutations in this gene are associated with drug-resistant epilepsy, severe intellectual disability, and autism. The therapy utilizes a neuron-specific mini promoter to drive the expression of the human full-length IQSEC2 open reading frame (ORF) and includes a synthetic polyadenylation site. In preclinical studies, the construct has demonstrated the ability to rescue abnormal phenotypes, including seizure thresholds and social behaviors, in IQSEC2 knockout mouse models (Class 1 mutations), though it showed limited efficacy in models with specific missense or frameshift mutations (Class 2).