AAV9-ASAH1

AAV9-ASAH1 is an adeno-associated virus serotype 9 (AAV9) gene therapy vector designed to deliver a functional human *ASAH1* gene. *ASAH1* encodes acid ceramidase (ACDase), a lysosomal enzyme responsible for the hydrolysis of ceramide into sphingosine and fatty acids. Mutations in the *ASAH1* gene lead to acid ceramidase deficiency, an ultra-rare lysosomal storage disorder characterized by the toxic accumulation of intracellular ceramide, which triggers inflammatory cascades and progressive tissue damage. This deficiency manifests across a clinical spectrum including Farber disease (FD) and spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). Developed by Généthon, AAV9-ASAH1 is intended for cerebrospinal fluid-directed administration (e.g., intracerebroventricular injection) to address the neurological manifestations of the disease by restoring ACDase activity and reducing neuroinflammation.

Other names

AAV9-hASAH1AAV-9-hASAH1AAV 9-hASAH1