Hollie is 9 years old and she suffers from Niemann-Pick Type C (‘NP-C’)
What is NP-C?
NP-C is a rare inherited metabolic condition.
Having NP-C means that Hollie cannot process cholesterol properly. Excessive amounts of cholesterol have accumulated within her liver and spleen and are continuing to build in her 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.
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.
There are multiple research studies currently under way through the USA and Europe into potential treatments and therapies for NP-C
A phase 2/3 intervential study to assess the efficacy of a compound called VT -270, a mixture of 2-hydroxypropyl-B- cyclodexrins is currently underway at multiple sites throughout the US and Europe. VT-270 targets cholesterol and sphingolipid storage. This trial is being run by Vitesse. Visit www.thenpcstudy.com to find out more.
Arimoclomol AIDNPC Interventional Study
A Phase III clinical trial is currently underway in multiple sites in the USA and Europe into Arimoclomol as a potential treatment for NP-C. The object of the study is to determine the efficacy and safety of arimoclomol in the treatment of NP-C. Arimoclomol is a small molecule taken orally which distributes throughout the body and bain. Arimoclomol acts by inducing the cells own heat shock proteins. To find out more visit www.orphazyme.com