Olipudase alfa (Xenpozyme)

概览

Olipudase alfa is a recombinant human acid sphingomyelinase used to treat Acid Sphingomyelinase Deficiency (ASMD) in children and adults.

作用机制

ASMD is an autosomal recessive genetic disorder caused by different mutations in the SMPD1 gene that encodes acid sphingomyelinase. Historically, ASMD has been called Niemann-Pick disease (NPD), with different classifications based on disease onset and severity. NPD type A (NPD-A) refers to the severe early-onset form, infantile neurovisceral ASMD and NPD type B (NPD-B) is referred to as the later-onset, chronic visceral form of ASMD. Chronic neurovisceral ASMD (NPD-A/B) is a phenotype with intermediate severity. ASMD has a broad spectrum of disease severity and neurological and non-neurological manifestations; thus, it is difficult to classify different types of ASMD using the former classification system of ASMD (A, B, A/B). Acid sphingomyelinase typically breaks down metabolically-related lipids such as sphingomyelin in various cell types, such as the monocytes, macrophages, and hepatocytes. The deficiency of acid sphingomyelinase thus leads to the accumulation of these lipids in body tissues, causing progressive cell and tissue damage and impairing organ functioning. Olipudase alfa is recombinant human acid sphingomyelinase that hydrolyzes sphingomyelin (SM), preventing its accumulation in body organs. As an enzyme replacement therapy, it is an exogenous source of acid sphingomyelinase.

适应症

Olipudase alfa is indicated as an enzyme replacement therapy for the treatment of non-Central Nervous System manifestations of Acid Sphingomyelinase Deficiency (ASMD) in pediatric and adult patients with type A/B or type B.

• Acid Sphingomyelinase Deficiency (ASMD)