Genzyme’s enzyme-replacement therapy olipudase alfa has picked up Breakthrough Designation from the US Food and Drug Administration as a treatment for a rare genetic lysosomal storage disease.

The Sanofi-owned group is developing the product to treat patients with non-neurological manifestations of acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease type B, a serious and life-threatening disorder caused by insufficient activity of the enzyme ASM, which leads to sphingomyelin toxicity.

There are currently no approved treatment options for patients with Niemann-Pick disease type B and so there is “tremendous unmet need”, says Genzyme’s Global Head of Rare Diseases, Richard Peters. 

Breakthrough status for olipudase alfa - which supplements the defective or deficient native enzyme with olipudase alfa to break down sphingomyelin - should help expedite the drug’s development timeframe and regulatory review. 

Enrollment of a Phase I/II paediatric study has begun and Phase II/III study in adults is scheduled for the second half of this year.