AAV9.P546.SLC6A1

AAV9.P546.SLC6A1 is an adeno-associated virus serotype 9 (AAV9) gene therapy designed for the treatment of SLC6A1-related neurodevelopmental disorders. The therapy delivers a functional human SLC6A1 gene, which encodes the GAT-1 (GABA transporter 1) protein, under the control of a truncated MECP2 promoter (P546). GAT-1 is a sodium- and chloride-dependent transporter responsible for the reuptake of the inhibitory neurotransmitter GABA from the synaptic cleft, thereby maintaining neurotransmitter homeostasis. Mutations in SLC6A1 lead to GAT-1 haploinsufficiency, resulting in a spectrum of symptoms including epilepsy (specifically absence seizures), developmental delay, and autism spectrum disorder. Developed by Nationwide Children's Hospital in collaboration with Neela Therapeutics, AAV9.P546.SLC6A1 is administered via a single intrathecal injection to target both neurons and astrocytes. It is currently being evaluated in a first-in-human Phase 1 clinical trial (NCT07173153).

Other names

AAV9.SLC6A1 Gene TherapyAAV-9.SLC6A1 Gene TherapyAAV 9.SLC6A1 Gene TherapySLC6A1 Gene TherapySLC-6A1 Gene TherapySLC 6A1 Gene Therapy