This is the sixth Blog Post in a series that will examine Lysosomal Storage Disorders (LSDs) in the rare disease and orphan drug space. This Blog Post reviews orphan drugs for the treatment of Niemann-Pick Disease (NPD).
Niemann-Pick Diseases (NPDs) are a subgroup of LSDs that affect metabolism and are caused by genetic mutations. NPD is named after the two doctors who described the symptoms in the early part of the 20th century – Dr. Albert Niemann and Dr. Luddwick Pick. NPDs are characterized by the harmful accumulation of quantities of fatty substances, or lipids, in the cells of the spleen, lungs, bone marrow, liver, and brain. The three most commonly recognized forms of NPD are:
• Niemann-Pick Types A & B (ASMD or Acid Sphingomyelinase Deficiency)
• Niemann-Pick Type C (NPC).
Niemann-Pick types A and B are caused by a deficiency of an enzyme called acid sphingomyelinase. The enzyme deficiency leads to enlargement…
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