AAV-SLC6A1

AAV-SLC6A1 is an investigational adeno-associated virus (AAV) vector-based gene therapy designed to treat SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD), a condition characterized by infantile epileptic encephalopathy and intellectual disability. The therapy utilizes an AAV9 serotype vector to deliver a functional copy of the *SLC6A1* gene, which encodes the GABA transporter 1 (GAT-1), to the brain. Deficiency of GAT-1 leads to impaired GABA clearance and widespread neural circuit dysfunction. Preclinical research conducted at academic institutions, including the University of Texas Southwestern Medical Center and Nationwide Children's Hospital, has demonstrated that targeting expression specifically to inhibitory neurons is necessary for safety and efficacy, as pan-neuronal expression has been associated with increased mortality and convulsive seizures in mouse models. Development has been supported by sponsored research agreements with BioMarin Pharmaceutical.

Other names

AAV-GAT1AAV-GAT-1AAV-GAT 1