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Niemann-Pick type C disease information
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Niemann-Pick type C disease (NP-C) is a rare genetic lysosomal storage disorder that causes severe, progressive neurological symptoms. It is a life-threatening condition that can affect infants, children and adults. NP-C is characterized by cellular accumulation of lipids, in particular unesterified cholesterol and glycosphingolipids, in many parts of the body including the brain, liver and spleen.

The symptoms of NP-C are highly variable and classically present in mid-to-late childhood. Symptoms include vertical supranuclear gaze palsy (VSGP), dysphagia, dysarthria, ataxia, progressive cognitive dysfunction with associated dementia, and in some cases seizures, and gelastic cataplexy. Lipid accumulation in the liver and spleen can lead to hepatosplenomegaly.

The rarity of NP-C and the heterogeneous nature of symptoms mean that it is often misdiagnosed or goes undetected. Consequently, the true incidence of NP-C is likely to be underestimated. Diagnosing NP-C is not straightforward and requires complicated biochemical testing that can only be performed in a limited number of specialist laboratories. Diagnosis is made more difficult by the lack of universal NP-C assessment and management guidelines. Alternative diagnostic tools are being developed that will make it easier to detect and characterize patients with NP-C.

Currently there is no cure for NP-C and prognosis is poor. A new NP-C-specific drug is now available that has been proven to stabilize or slow down neurological disease progression in NP-C patients.  This website describes the causes of NP-C, the associated symptoms, diagnosing and treating the disease.

Also included is a link to additional sources of further information relating to NP-C.

NPC-info.com has been developed by Actelion Pharmaceuticals Ltd as an educational resource for healthcare providers and interested parties.