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Lysosomal Storage Disorders: Orphan Drugs For Niemann-Pick Disease

March 6, 2014

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 of the liver and spleen, lung disease, low blood cell counts, and in some cases a shortened lifespan. Mutations in the SMPD1 gene causes NPD Types A and B, while mutations in the NPC1 and NPC2 causes NPD Type C. NPD is an autosomal recessive disorder, which means it is not sex-linked and must be inherited from two parents who carry a mutation on one copy of the Niemann-Pick gene. The incidence of NPD:

•   Among Ashkenazi Jews is  approximately 1/40,000 for Type A
•   In all other populations, it is approximately 1/250,000 for Types A & B
•   It is approximately 1/150,000 for Type C.

FDA Orphan Drug Designations For NPD

The chart below identifies FDA Orphan Drug Designations (ODDs) for NPD since the Orphan Drug Act of 1983:


  Generic Name/ODD  Date Sponsor Company Indication
1 Acid Sphingomyelinase/ 08.03.00 Genzyme Acid Sphingomyelinase Deficiency (NPD)
2 Miglustat (Zavesca)/ 11.12.08 Actelion Pharmaceuticals Neurological Manifestations of NPD Type C
3  Hydroxy-Propyl-Beta-Cyclodextrin (Trappsol)/   05.17.10 Children’s Hospital & Research Center Oakland NPD Type C
4  2-hydroxypropyl-B-cyclodextrin (Kleptose)/   02.18.13 National Institute of Health NPD Type C
5 Allopregnanolone/07.12.13 LaJolla Pharmaceutical NPD Type C



The National Niemann-Pick Disease Foundation announces two fellowships:

•   Peter G. Pentchev Research Fellowship for examining the biology of Niemann-Pick Type C (NPC)

•   Edward H. Schuchman Research Fellowship for examining the biology of Acid Sphingomyelinase Deficiency (ASMD or Niemann-Pick Disease Types A and B).

Applications are due May 1, 2014.

Please Note: “First Pigment Analysis (5893349712)” by NASA ICE (First Pigment Analysis  Uploaded by russavia) [CC-BY-2.0] | Wikimedia Commons.

Copyright © 2012-2014, Orphan Druganaut Blog. All rights reserved.


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