AAV9-CYP2U1

AAV9-CYP2U1 is an adeno-associated virus (AAV) serotype 9-based gene therapy designed to treat spastic paraplegia type 56 (SPG56). SPG56 is a rare, recessive neurological disease caused by loss-of-function mutations in the *CYP2U1* gene, which encodes a cytochrome P450 enzyme involved in arachidonic acid metabolism. The therapy utilizes an AAV9 vector to deliver a functional copy of the *CYP2U1* gene under the control of the EF1α promoter. Administered via the cerebrospinal fluid (CSF), the vector aims to restore CYP2U1 expression in the central nervous system to alleviate neuronal pathology. Preclinical studies in patient-derived cortical organoids and mutant mice have demonstrated efficacy, and toxicology studies in rats have established a safety profile supporting transition to Phase 1 clinical trials.