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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

26.08.16

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. The 001 study has already provided us with some valuable learnings: The NPC-CSS disease score were completed by patients with a good compliance, the skin biopsies and blood tests have been valuable for development and conformation of biomarkers, and we found that two-thirds of patients were treated with miglustat as part of their standard of care. Once all data have been analysed, we expect to gain insight about biomarkers and how the disease evolves over time in greater detail.

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26.08.16

Route of Administration Preferences Study

There is an opportunity for you to participate in a market research study about Niemann-Pick Type C, conducted by an organization called ApotheCom on behalf of an industry sponsor.

The goal of the study is to understand your preferences and concerns regarding the method through which a drug could be administered to manage Niemann-Pick Type C.

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