Niemann Pick Disease Type C

An individual with NP-C is unable process cholesterol properly. Excessive amounts of cholesterol accumulate in their liver and spleen and eventually their brain, doing irreversible damage.

Symptoms of NP-C can include:-

Enlarged spleen and liver;
Prolonged jaundice;
Progressive loss of motor skills;
Difficultly walking;
Slurred speech;
Swallowing problems;

There are just over 1000 known cases of NP-C worldwide. It is believed, however that the number of people affected is higher but difficulties diagnosing the disease make it hard to accurately assess the occurrence rate.

NP-C is always fatal. The vast majority of children die before age 20 (and many die before the age of 10).

How is it inherited?

A child with Niemann-Pick disease will have inherited two abnormal genes from their parents, one from the mother and one from the father. In the parents these genes are recessive, that is to say that each parent carries a single copy of the gene without any clinical signs of the disease. Every time a couple who each carry the recessive gene have a child, there is one in four chance (25%) that the child will inherit the disease.

In Edward’s case only his mother is the carrier of this faulty gene and what occurred is an extremely rare medical phenomena known as a UPD (Uniparental Dysomy).
This occurs when a person receives two copies of a chromosome, or of part of a chromosome, from one parent and no copies from the other parent.

Is there a Cure?

At present there is no cure for NP-C.

One drug which is licenced in Australia for NP-C is called Zavesca (also known as Miglustat). This medication has been shown to help in treating symptoms of NP-C and in some cases to slow down disease progression. Unfortunately however it is not a cure.

Currently there is phase 1 clinical trial at the National Institute of Health in Maryland, USA into a potential therapy called cyclodextrin.
Other compounds currently being investigated is an Oncology Drug known as Vorinostat and also biological metals including copper,zinc and iron.


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