© The Hollie Foundation 2017

Registered Charity Number 1156216

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THE SYMPTOMS

  • Enlarged Spleen and Liver

  • Prolonged Jaundice

  • Loss of Motor Skills 

  • Difficultly Walking

  • Slurred Speech 

  • Swallowing Problems

  • Seizures

  • Dementia

  • Tremors

  • Psychiatric Problems

  • Intellectual Decline

HOW IS IT INHERITED

A child with NP-C will have inherited one faulty gene from each parent. 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 that the child will inherit the disease.

Although there is medication to help manage the symptoms of

NP-C and slow down progression, there is currently no cure. The disease progresses meaning it gets worse over time. 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.

 

IS THERE A CURE

RESEARCH STUDIES

There are multiple research studies currently under way through the USA and Europe into potential treatments and therapies for NP-C. VT-270 (Cyclodextrin) is in a phase 2/3 study at multiple sites through the US and Europe. An interventional study into the safety of a drug called Arimoclomol is also underway.

What Is NP-C

NP-C is a rare genetically inherited disease which affects both children and adults. The disease is neurologically progressive. Having NP-C means that an affected individual cannot process cholesterol and other fatty lipids properly. Excessive amounts accumulate in the brain and other major organs. The brain, central nervous system, liver and spleen are all affected.

It is estimated that there are just over 1000 known cases of NP-C worldwide, with approximately a 100 living in the UK. The disease is believed to affect one in every 120,000 births; however this figure is likely to be underestimated due to the rarity of the disease and misdiagnosis.