AAV-SYNGAP1

AAV-SYNGAP1 is an investigational adeno-associated virus (AAV)-mediated gene therapy being developed by EpiCure Therapeutics for the treatment of SYNGAP1-related disorders (SRDs), including SYNGAP1-related intellectual disability and epilepsy. The therapy utilizes an AAV vector to deliver a full-length, functional copy of the human SYNGAP1 gene, specifically the SYNGAP1-Aα1 isoform, to neurons in the brain. SYNGAP1 is a critical synaptic scaffolding and signaling protein whose haploinsufficiency leads to severe neurodevelopmental conditions characterized by epilepsy, cognitive impairment, and motor deficits. By restoring SYNGAP1 expression and function through gene supplementation, the therapy aims to normalize brain wave patterns and reduce epileptic activity. Preclinical studies in mouse models have demonstrated that AAV delivery of SYNGAP1 can significantly improve behavioral phenotypes, including hyperactivity and risk-taking behaviors, even when administered after symptom onset in juvenile stages.

Other names

AAV delivery of full-length SYNGAP1EpiCure SYNGAP1 gene therapyAAV-SYNGAP1-Aα1