AAVrh.10-hMPSIIIA

AAVrh.10-hMPSIIIA is an investigational gene therapy developed by SANFILIPPO Therapeutics SAS for the treatment of Sanfilippo syndrome type A (Mucopolysaccharidosis type IIIA, or MPS IIIA), a rare and fatal lysosomal storage disorder. The therapy utilizes a recombinant adeno-associated viral vector of serotype rh.10 (AAVrh.10) to deliver two human transgenes: the SGSH cDNA, which encodes heparan-N-sulfamidase (the enzyme deficient in MPS IIIA), and the SUMF1 cDNA, which encodes sulfatase-modifying factor 1 to enhance the activity of the sulfatase enzyme. Administered via direct intracerebral (intraparenchymal) injection, the drug targets the central nervous system to correct the lysosomal enzyme deficiency and reduce the toxic accumulation of heparan sulfate in the brain. It has been evaluated in an open-label, single-arm, monocentric phase I/II clinical trial focused on safety and exploratory efficacy markers.

Other names

AAVrh.10-SGSH-SUMF1AAVrh.10-hMPSIIIA Gene Therapy