AAV9-hSyn1-WWOX

AAV9-hSyn1-WWOX is an experimental adeno-associated virus serotype 9 (AAV9) gene therapy designed to treat neurodevelopmental disorders caused by biallelic loss-of-function mutations in the WWOX gene. These disorders include WWOX-related epileptic encephalopathy (WOREE syndrome) and spinocerebellar ataxia autosomal recessive 12 (SCAR12). The therapy utilizes the human Synapsin I (hSyn1) promoter to ensure neuron-specific expression of the WWOX protein, which is critical for normal brain development, myelination, and neuronal excitability. Preclinical studies in Wwox-null mice have shown that early postnatal administration of AAV9-hSyn1-WWOX can significantly improve survival, growth, and motor function while suppressing seizures and neuroinflammation. The vector design was optimized by removing the WPRE element to prevent potential toxicity from overexpression.

Other names

AAV9-WWOXAAV-9-WWOXAAV 9-WWOX