AAV9-cTsc2

AAV9-cTsc2 is an adeno-associated virus serotype 9 (AAV9) gene therapy vector designed to deliver a condensed version of the Tsc2 gene (cTsc2). It is being investigated for the treatment of Tuberous Sclerosis Complex (TSC), a genetic disorder caused by mutations in the TSC1 or TSC2 genes, which leads to overactivation of the mTOR pathway and symptoms such as drug-resistant epilepsy and brain malformations. In preclinical mouse models (NEX-Tsc2 KO), AAV9-cTsc2 has demonstrated the ability to increase Tsc2 protein levels in cortical tissue and delay seizure onset, particularly when combined with mTOR inhibitors like RAD001 (everolimus).