Len Walt, Vice President, Medical Affairs, North America discusses his company’s focus on rare diseases, specificially MPS IIIA or Sanfilippo A syndrome.
MPS IIIA is a progressive, life-threatening and rare inherited metabolic disorder affecting children from a young age. This disorder belongs to a group of diseases called lysosomal storage disorders (LSDs). In MPS IIIA, the body is unable to break down long chains of sugar molecules called heparan sulfate, resulting in the accumulation of heparan sulfate in lysosomes. MPS IIIA mainly affects the central nervous system where it causes severe progressive degeneration.
Up to about 2,000 people are estimated to live with MPS IIIA in the EU and US. The disease is usually identified at three to four years of age and the life-span of an affected child does not usually extend past the end of the second or beginning of the third decade. There is no treatment for MPS IIIA to date.
