Rare disease spotlight: enzyme replacement therapy for the brain
At least seven companies aim to overcome the challenge of delivering an enzyme across the blood-brain barrier to treat MPS IIIA
A challenge that enzyme replacement therapies face in treating diseases with CNS involvement is penetrating the blood-brain barrier, but at least seven companies believe they have solutions for shuttling the missing enzyme into the brain to treat mucopolysaccharidosis type IIIA, a lysosomal storage disorder characterized by a buildup of sugar chains that leads to neuronal dysfunction.
Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage diseases caused when certain enzymes become deficient or malfunction, causing accumulation of glycosaminoglycans (GAGs) that are no longer degraded by those enzymes. Of the nine forms of the rare disease, MPS III or Sanfilippo syndrome is most prevalent, affecting one in 70,000 births. It also has a higher degree of CNS involvement than several of the other MPS types...