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Niemann-Pick Disease

Niemann-Pick diseases are a group of rare inherited lysosomal storage disorders that can affect both children and adults.

Acid Sphingomyelinase Deficiency (ASMD) includes Niemann-Pick Disease Type A (NP-A) and Type B (NP-B), which are caused by a lack of the enzyme acid sphingomyelinase leading to a build-up of toxic materials in the body.

Niemann-Pick Disease Type C (NP-C) is a devastating neurodegenerative disease caused by an accumulation of lipids (fats) in the liver, brain and spleen.

Niemann-Pick Disease

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Latest news

11.07.18

Are you looking forward to the NPUK Annual Family Conference?

We are looking forward to this year's NPUK Annual Family Conference & Interactive Workshop on Niemann-Pick Diseases, which will mark a special milestone - the 25th time we are all coming together as a community!

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30.05.18

NPUK News: Summer 2018

We are happy to announce that the latest edition of NPUK News is here...and, as ever, is full to the brim of information and updates for the NPUK community including; the 'Research Report' by NPUK Trustee Bill Owen, updates from our wonderful Care and Support team (Laura Bell, Elizabeth Davenport, and Steve Neal), a collection of stories from our fantastic fundraisers, news on our upcoming Annual Family Conference & Interactive Workshop, updates from the INPDA International Niemann-Pick Disease Alliance, INPDR International Niemann-Pick Disease Registry, The Hollie Foundation and...well...so much more!

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