he enzyme replacement therapy is being investigated for the treatment of patients with nonneurological manifestations of acid sphingomyelinase deficiency or ASMD, also known as Niemann-Pick disease type B, as opposed to type A which is characterized by neurological involvement.
ASMD is a serious and life-threatening disorder caused by insufficient activity of the enzyme acid sphingomyelinase (ASM), which results in toxic accumulation of sphingomyelin. There are currently no approved treatment options for patients with Niemann-Pick disease type B.
Olipudase alfa is being developed by Genzyme to potentially address the fundamental defect underlying the disease. Supplementing the defective or deficient native enzyme with olipudase alfa allows for the breakdown of sphingomyelin, whose accumulation is responsible for the clinical manifestation of ASMD.
The Breakthrough Therapy designation is supported by data from a completed Phase 1b study of olipudase alfa. Findings in five adult patients with nonneuronopathic ASMD were presented at the Lysosomal Disease Network’s WORLD Symposium in February 2015.
The company has started enrollment of a Phase 1/2 pediatric study and is preparing for enrollment of a Phase 2/3 adult study in the second half of 2015.