AAV9-hSGSH

AAV9-hSGSH (also known as EGT-101) is an investigational gene therapy developed by Esteve Pharmaceuticals for the treatment of mucopolysaccharidosis type IIIA (MPS IIIA), or Sanfilippo syndrome type A. MPS IIIA is a rare, progressive, and fatal lysosomal storage disorder caused by mutations in the SGSH gene, which results in a deficiency of the enzyme N-sulfoglucosamine sulfohydrolase (SGSH). This deficiency leads to the toxic accumulation of heparan sulfate, particularly in the central nervous system, causing severe neurodegeneration. AAV9-hSGSH utilizes an adeno-associated virus serotype 9 (AAV9) vector, known for its ability to cross the blood-brain barrier and its high tropism for CNS tissues, to deliver a functional copy of the human SGSH gene. The therapy is designed to be administered as a single dose, typically via intracerebroventricular injection, to restore enzyme production and mitigate the neurological symptoms of the disease.

Other names

AAV9-SGSHAAV-9-SGSHAAV 9-SGSH