BioMarin Pharmaceutical is building up its pipeline with the acquisition of Inozyme Pharma in a $270 million deal centered on an enzyme replacement therapy that could become the first FDA-approved ...

If you or someone you know has Fabry disease, you may have heard of Galafold. This is the first and only medicine for Fabry disease that can be taken by mouth. Other treatments for Fabry disease, ...

A recombinant replacement for the ADAMTS13 protein (Adzynma) missing in congenital thrombotic thrombocytopenic purpura (TTP) restored levels and reduced acute TTP events, according to interim trial ...

For the last 10 years, the only effective treatment for hypophosphatasia (HPP) has been an enzyme replacement therapy that must be delivered by injection three-to-six times each week. It's been a ...

VIENNA, Austria — The appropriate dose of pancreatic enzyme replacement therapy (PERT) for exocrine pancreatic insufficiency (EPI) depends on the root cause of the insufficiency, according to results ...

A Denali Therapeutics drug for the rare enzyme deficiency Hunter syndrome is still in pivotal testing, but the company has guidance from the FDA on a pathway to get this therapy to the market sooner.

MPS II, also called Hunter syndrome, is a rare genetic disease that affects over 2,000 individuals, primarily males, world-wide, and leads to behavioral, cognitive, and physical symptoms ultimately ...

Breakthrough Therapy Designation Supported by Integrated Long-Term Clinical Data Demonstrating Normalization in Cerebral Spinal Fluid Heparan Sulfate Non-Reducing End (CSF HS-NRE) U.S. FDA Confirmed ...