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Niemann-Pick type C disease
Welcome to NPC-info.com

Niemann-Pick type C disease (NP-C) is a rare genetic disorder caused by a defect in the movement of fatty molecules within the cells of the body. It is an inherited disease that leads to serious, life-threatening neurological symptoms and can affect infants, children and adults. The symptoms of NP-C are extremely varied and include eye movement problems, difficulty swallowing, slurred, irregular speech, a lack of muscle control, progressive intellectual impairment which often leads to dementia and for some sufferers an enlarged liver and/or spleen.

Diagnosing NP-C is not straightforward and the highly varied pattern of symptoms means it is often misdiagnosed or goes undetected altogether. Consequently, the true number of cases of NP-C is likely to be higher than currently thought. The diagnostic tests needed to confirm NP-C are complicated to perform and can only be carried out at a very limited number of specialist laboratories. Fortunately, new diagnostic tools are being developed that will make it easier to detect and treat NP-C in the future.

There is presently no cure for NP-C and until recently, treatments focused on symptom management. A new NP-C-specific treatment that has recently become available, as well as others in development, will significantly improve the outlook for NP-C patients. This website describes how NP-C develops, the symptoms associated with this disease and how it can be investigated and treated.

Also included is a link to additional sources of further information relating to NP-C and links to patient support organizations around the world.

NPC-info.com has been developed by Actelion Pharmaceuticals Ltd as an educational resource for the public.