Mucopolysaccharidosis type IIIA (MPS IIIA), or Sanfilippo syndrome type A, is a rare inherited neurodegenerative lysosomal storage disorder characterized by intractable behavioural problems and developmental regression resulting in early death. It is caused by mutations in the SGSH gene, which encodes an enzyme called Heparan-N-sulfamidase necessary for heparan sulfate (HS) recycling in cells. The disrupted lysosomal degradation and resulting storage of HS and glycolipids such as gangliosides leads to severe neurodegeneration. MPS IIIA affects about 1 in 100,000 new-borns and is inherited in an autosomal recessive pattern. There is currently no treatment.
Lysogene’s MPS IIIA gene therapy clinical trial strategy includes a partnership with the MPS patient networks to ensure families are well informed about our development program and are able to make informed choices concerning the best treatment strategy for their children. More information on our MPS IIIA clinical trials.