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FDA Breakthrough Therapy And A Rare Disease: Genzyme’s ERT Olipudase Alfa For Niemann-Pick Disease

June 4, 2015

Genzyme, a Sanofi company, announces June 4th that the FDA grants the Breakthrough Therapy Designation (BTD) to its investigational Enzyme Replacement Therapy (ERT), Olipudase Alfa. It is being developed for the treatment of the nonneurological manifestations of the rare disease, Niemann-Pick Disease (NPD) Type B. There are currently no approved treatment options for patients with Niemann-Pick disease type B. Genzyme has initiated enrollment of a Phase I/II pediatric study. In the second half of 2015, the company is getting ready for enrolling patients for a Phase II/III adult study.

NPDs are a subgroup of Lysosomal Storage Diseases (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 spleen, lungs, bone marrow, liver, and brain. The three most commonly recognized forms of NPD are:

•   NPD Types A & B (ASMD or Acid Sphingomyelinase Deficiency)

•   NPD Type C (NPD Type C).

NPD 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:

  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
6 Arimoclomal Citrate/ 01.13.15 OrphazymeApS (Denmark) NPD Type C


BTD References


FDA BTD Approval Chart

FDA BTD Statistics Chart

Niemann-Pick Disease Organizations

Ara Parseghian Medical Research Foundation (Type C)

International Niemann-Pick Disease Alliance (INPDA)

National Niemann-Pick Disease Foundation (US)

Niemann-Pick Disease Group (UK).

Please Note: “White Pocket Reflection” by John Fowler (Flickr: White Pocket Reflection) [CC BY 2.0] | Wikimedia Commons.

Copyright © 2012-2015, Orphan Druganaut Blog. All rights reserved.

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