AAV9-HGSNAT

AAV9-HGSNAT is an experimental gene therapy designed to treat Mucopolysaccharidosis IIIC (MPS IIIC), also known as Sanfilippo Syndrome Type C. It utilizes an adeno-associated virus serotype 9 (AAV9) vector to deliver a functional copy of the *HGSNAT* gene, which encodes the enzyme heparan-alpha-glucosaminide N-acetyltransferase. MPS IIIC is a rare lysosomal storage disorder caused by mutations in *HGSNAT*, leading to the accumulation of heparan sulfate and subsequent progressive neuropsychiatric and cognitive decline. Because the HGSNAT enzyme is membrane-bound and cannot cross the blood-brain barrier, the therapy is designed for direct delivery to the central nervous system via intraparenchymal or intrathecal administration. Preclinical studies in mouse and sheep models have demonstrated the potential for functional enzyme expression and safety, supporting its further development as a disease-modifying therapy.

Other names

AAV9/HGSNAT