Ana Pena, PhD,  —

A test that measures cells’ sulfamidase enzyme activity could help doctors predict the severity of Sanfilippo type A, a study reports. It could also lead to Sanfilippo being added to the list of diseases that newborns are screened for. And it could prove essential to the design…

Shire, Microsoft and Rare Diseases Europe have formed an alliance to try to accelerate the time it takes to diagnose children with rare diseases such as Sanfilippo syndrome. Meanwhile, Shire said it is holding or taking part in 40 events on Rare Disease Day (Feb. 28) to raise…

BioMarin Pharmaceutical announced interim results for its Phase 1/2 trial evaluating BMN 250, an enzyme replacement therapy, for the treatment of Sanfilippo B syndrome, also called mucopolysaccharidosis IIIB. The results, presented at WORLDSymposium 2018, show that treatment with BMN 250 via brain infusions helped restore normal levels of heparan…