AAV9-cTub

AAV9-cTub is an adeno-associated virus serotype 9 (AAV9) gene therapy candidate designed for the treatment of Tuberous Sclerosis Complex (TSC) resulting from mutations in the TSC2 gene. TSC2 encodes tuberin, which forms a complex with hamartin (TSC1) to inhibit the mTOR pathway; loss of tuberin leads to mTOR hyperactivation, causing severe epilepsy and neurodevelopmental issues. Because the full-length TSC2 cDNA exceeds the standard packaging capacity of AAV vectors, AAV9-cTub utilizes a condensed version of the tuberin protein (cTub) that fits within the AAV cargo limits while maintaining functional suppression of mTOR signaling. Preclinical data in mouse models indicate that systemic administration of AAV9-cTub can reduce seizure incidence and normalize mTOR activity markers such as phosphorylated S6 ribosomal protein.

Other names

AAV9-condensed tuberinAAV-9-condensed tuberinAAV 9-condensed tuberinAAV-mediated tuberin replacement therapy