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Niemann-Pick Disease Type C

Overview

Niemann-Pick Type C (NP-C) is a rare inherited neurodegenerative disease that affects infants, children and adults. It is caused by an accumulation of lipids (fats) in the liver, brain and spleen. The age of onset and rate of disease progression can vary greatly from person to person; for example some children develop neurological symptoms early in childhood, whereas others may remain symptom free for a number of years.

It is inherited when two copies of a faulty gene (a mutation) are passed on to a child. In every pregnancy of a couple who each carry a copy of the faulty Niemann-Pick gene, there is a 1 in 4 chance (25%) that their child will have Niemann-Pick disease. This is known as autosomal recessive inheritance.

NP-C is divided into two subtypes, NP-C1 and NP-C2, as each is caused by a different gene mutation. Approximately 95 per cent of NP-C cases are caused by genetic mutations in the NP-C1 gene, with the other five per cent caused by mutations in the NP-C2 gene.

The incidence of NP-C is widely reported at 1  in 120,000, although recent evidence suggests  this may be an under-estimate.

Cause

Diagnosis

Symptoms

Treatments

Video Overview

Latest news

20.11.17

Orphazyme’s CEO, Anders Hinsby: Letter to NP-C Community

A letter to the NPC community from Orphazyme’s CEO, Anders Hinsby. We are please to also provide translations (from English into German, French, Spanish, Italian, Polish) of this letter.

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05.10.17

Update #17 on the AIDNPC Clinical Programme

The study was recently completed in May 2017. A total of 35 patients were enrolled across 12 sites in 8 countries. The primary objective of the 001 study was to characterize the individual patient’s disease progression profile through clinical, biological and quality-of-life measures recorded prospectively, as well as the historic disease information collected from patient medical records.

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