Enzyme Replacement Therapy for Rare Disease Granted Breakthrough Designation

June 8, 2015
Corey Allikas

The FDA has granted breakthrough therapy designation to Genzyme's olipudase alfa enzyme replacement treatment for nonneurological manifestations of acid sphingomyelinase deficiency.

The FDA has granted breakthrough therapy designation to Genzyme’s investigational olipudase alfa enzyme replacement treatment for nonneurological manifestations of acid sphingomyelinase deficiency (ASMD).

Patients with nonneuronopathic ASMD, also known as Niemann-Pick disease type B, do not produce enough of the enzyme acid sphingomyelinase that breaks down sphingomyelin. When it is not broken down, sphingomyelin accumulates to toxic levels in cells until they can no longer function and eventually die.

Currently, there is no FDA-approved medication to treat nonneuronopathic ASMD.

“There is tremendous unmet need in the ASMD/Niemann-Pick disease type B community, and we are hopeful that olipudase alfa can be developed into a meaningful treatment for patients,” stated Richard Peters, MD, PhD, Genzyme’s global head of rare diseases.

Olipudase alfa is designed to mimic the function of sphingomyelinase and assist in the breakdown of sphingomyelin. The drug’s breakthrough therapy designation was supported by phase 1b study data demonstrating positive results in 5 adult patients with nonneuronopathic ASMD.

Genzyme is starting to enroll subjects in a phase 1/2 pediatric study, and it is also planning enrollment for a phase 2/3 adult study in the second half of 2015.