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Olipudase alfa, enzyme replacement therapy to treat non-neurological manifestations which characterize Niemann-Pick disease type B

The FDA ( Food and Drug Administration ) has granted Breakthrough Therapy designation to Olipudase alfa. This enzyme replacement therapy is being investigated for the treatment of patients with non-neurological manifestations of acid sphingomyelinase deficiency ( 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 type B.

Breakthrough Therapy designation is intended to expedite the development and review of investigational new drugs that target serious or life-threatening conditions.
The criteria for granting Breakthrough Therapy designation are preliminary clinical evidence of substantial improvement on a clinically significant endpoint over available therapies.

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 data presented on the repeat-dose safety, pharmacodynamics, and exploratory efficacy of Olipudase alfa support its continued development for the investigational use in non-neurological manifestations of ASMD.

Acid sphingomyelinase deficiency is one of a group of lysosomal storage diseases that affect the metabolism and that are caused by genetic mutations.
ASMD is caused by the deficiency of a specific enzyme, acid sphingomyelinase ( ASM ). This enzyme is found in special compartments within cells called lysosomes and is required to metabolize a lipid called sphingomyelin.
If ASM is absent or not functioning properly, sphingomyelin cannot be metabolized properly and is accumulated within the cell, eventually causing cell death and the malfunction of major organ systems.
Niemann-Pick A and Niemann-Pick B are both caused by the same enzymatic deficiency and there is growing evidence that the two forms represent opposite ends of a continuum. ( Xagena )

Source: Sanofi, 2015