NP-C is a rare inherited metabolic condition. Having NP-C means that Lleyton cannot process cholesterol
properly.Excessive amounts of cholesterol have accumulated within his liver and spleen and are continuing to
build in his brain, doing irreversible damage.
Symptoms of NP-C can include:-
•Enlarged spleen and liver;
•Progressive loss of motor skills;
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.
Is there a Cure?
At present there is no cure for NP-C. One drug which is licenced in the UK 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.
It is hoped that a phase 1 clinical trial will commence in spring 2012 at the National Institute of Health in Maryland, USA into a potential therapy called cyclodextrin. Specific details of this trial will not be available until FDA and NIH Ethics approval has been granted.
For more information on NP-C visit www.niemannpick.org.uk