What are Niemann Pick Diseases?

  • Niemann-Pick diseases (NPD) are a group of rare inherited Lysosomal Storage Disorders (LSDs) that can affect both children and adults.
  • Acid Sphingomyelinase Deficiency (ASMD) Niemann-Pick Disease Type A and Type B represent opposite ends of a spectrum of the same disease, characterised by a deficiency of the enzyme acid sphingomyelinase ASMD. Type A is a quickly progressing neurodegenerative disease which results in premature death usually before the age of 5.
  • ASMD Type B is a less progressive variable condition resulting in enlarged liver and spleen with varying effects on other organs including the lungs.
  • Niemann-Pick Type C disease (NPC) is caused by an accumulation of lipids (fats) in the liver, brain and spleen. The vast majority of children die before age 20 (and many die before age 10). NPC causes progressive neurological damage, loss of motor skills, issues with swallow, seizures and dementia.
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Treatment of NPD

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The registry is owned by the International Niemann-Pick Disease Registry Project, and is managed by an international consortium of professionals and is hosted at the University Hospitals Birmingham NHS Foundation Trust (UHB) in the UK. The project to develop the INPDR arises from the NPDR project which has received funding from the European Union, in the framework of the Health Programme.