Genzyme, a subsidiary of global pharmaceutical company Sanofi announced that the U.S. FDA has granted Breakthrough Therapy Designation to its olipudase alfa for the treatment of Niemann-Pick disease type B.  Niemann-Pick disease is a group of genetic disorders, among which types A and B are caused by deleterious mutations in the SMPD1 gene.  Niemann-Pick disease type B is less severe clinically than type A and is often without manifestations of neurological involvement.  SMPD1 gene encodes an enzyme called acid sphingomyelinase responsible for converting sphingomyelin (one type of lipid) to ceramide, another type of lipid and also a signaling molecule important for cellular functions.  Mutations in SMPD1 result in a shortage of acid sphingomyelinase, leading to accumulation of sphingomyelin and eventually cell malfunction and death.  Over time, cell loss impairs function of tissues and organs including the brain, lungs, spleen, and liver in people with Niemann-Pick disease types A and B.  Currently, there are no approved treatment options for this genetic disorder.  Olipudase alfa is an enzyme replacement therapy aimed at addressing the fundamental deficiency underlying the disease.  According to Genzyme, the company has started enrollment of a Phase I/II pediatric clinical study and is preparing to initiate a Phase II/III adult study in the second half of this year.

 

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http://news.genzyme.com/press-release/fda-grants-breakthrough-therapy-designation-genzymes-olipudase-alfa