Novel Enzyme Designated Breakthrough Therapy for Niemann-Pick Disease

Genzyme announced that the Food and Drug Administration (FDA) has granted Breakthrough Therapy designation for olipudase alfa, an enzyme replacement therapy being studied for the treatment of patients with non-neurological manifestations of acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease type B.

There are currently no approved treatment for patients with Niemann-Pick disease type B. It is thought that supplementing with olipudase alfa allows for the breakdown of sphingomyelin, whose accumulation is responsible for the clinical manifestation of ASMD.

RELATED: First-In-Class Enzyme Replacement Therapy for Hypophosphatasia Under Review

The Breakthrough Therapy designation was based on data from a Phase 1b study (n=5) in adults with non-neuronopathic ASMD. Study data on repeat-dose safety, pharmacodynamics, and exploratory efficacy of olipudase alfa support its further development.

Genzyme has initiated enrollment for a Phase 1/2 pediatric study and is preparing for a Phase 2/3 adult study in the second half of 2015.

For more information visit