Joslyn Crowe, executive director of the National Niemann-Pick Disease Foundation (NNPDF) talks about the recent approval of olipudase alfa to treat pediatric and adult patients with Acid Sphingomyelinase Deficiency (ASMD). 

ASMD is an autosomal recessive genetic disorder caused by mutations in the SMPD1 gene. That gene encodes for acid sphingomyelinase (ASM), an enzyme that metabolizes sphingomyelin. ASMD is also knows as Niemann-Pick disease types A, A/B, and B. Olipudasae alfa is an enzyme replacement therapy designed to replace the deficient or defective ASM.

In the more severe, infantile form of ASMD, both central and peripheral symptoms are present while in the less severe adult forms, largely peripheral symptoms dominate.

The approval of the enzyme replacement therapy was largely based on a randomized, double-blind, placebo-controlled study of 31 patients given olipudase alfa or placebo. In the trial, the orphan drug was shown to improve lung function and reduced liver and spleen size. As Ms. Crowe notes, the small N of the trial is indicative of the struggles the community has had in developing a drug and a clinical trial program that could be properly reviewed by regulatory agencies. 

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