AAV9-CTR1

AAV9-CTR1 is an adeno-associated virus serotype 9 (AAV9) gene therapy candidate designed for the treatment of copper transporter 1 (CTR1) deficiency, a rare autosomal recessive disorder characterized by cerebral and cerebellar degeneration. CTR1, encoded by the SLC31A1 gene, is a high-affinity copper importer essential for cellular respiration, redox homeostasis, and neurotransmitter synthesis within the central nervous system. Mutations in CTR1 lead to severe brain copper deficiency, resulting in progressive neurodegeneration, seizures, and developmental delays. AAV9-CTR1 functions by delivering a functional copy of the CTR1 gene to restore copper transport and homeostasis. It is currently being evaluated in preclinical models, both as a monotherapy and in combination with copper histidinate (CuHis).