AAV-ASAH1

AAV-ASAH1 is an adeno-associated virus (AAV) vector-based gene therapy designed to treat acid ceramidase deficiency, a rare lysosomal storage disorder. The therapy delivers a functional copy of the ASAH1 gene, which encodes the enzyme acid ceramidase. Acid ceramidase is responsible for breaking down ceramides into sphingosine and fatty acids; its deficiency leads to the accumulation of ceramides, resulting in conditions such as Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). The drug is currently being evaluated in a single-center exploratory study in China to assess its safety, tolerability, and preliminary efficacy in pediatric patients.