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About Niemann-Pick Type C
Niemann Pick Disease (NPD) constitutes a group of genetic diseases. The three most commonly recognized forms are: Type A, B and C. Types A and B result from the deficiency of a certain enzyme (sphingomyelinase), which is necessary to breakdown a special lipid (sphingomyelin).

Despite having sufficient levels of this enzyme, Type C patients are unable to breakdown this lipid, resulting in the abnormal accumulation of this lipid and a build up of cholesterol in the body's cells.

All of these forms of Niemann-Pick Disease show evidence of fatty deposits in one or more organs of the body - in particular, the liver, the spleen and the brain.

NPD progresses with symptoms of increased clumsiness, lack of coordination, seizures, and a gradual failure of physical and mental functions. Most children with Type C rarely live past the age of 15 years. The parents of children with Niemann-Pick are carriers and they have a 1 in 4 probability with each pregnancy of having an affected child.

What Treatment is Available for Niemann Pick - Type C

For Type C NPD no specific treatment is currently available. A healthy low-cholesterol diet is recommended. However research into low-cholesterol diets and cholesterol-lowering drugs do not indicate that these halt the progress of the disease or change cholesterol metabolism at the cellular level.

What Research is Being Done?

In July 1997, the primary gene causing Type C ("NPC1" on Chromosome 18) was isolated.

The NPC1 gene account for 95% of the Type C cases. In December 2000, two articles were published in "Science" concerning NPD type C. These articles indicated that doctors had identified a second Niemann - Pick Type C causing gene (NPC2) that occurs on Chromosome 14. With these two discoveries, doctors have developed a much better understanding of the whole cholesterol metabolism process.

In January 2002, doctors from Columbia University, U.S.A. and Oxford University, U.K., began to conduct a 12-month clinical trial for children over 12 years old with the drug, OGT-918. Niemann Pick Type C patients experience a build-up of glycolipids - the sugar compounds that the brain uses to send signals from one neuron (nerve cell) to another. Either an excess, or a deficiency of these glycolipids will cause the brain's neurons to stop sending signals to one another.

It is hoped that the OGT-918 drug will act as both an inhibitor and a moderator towards these glycolipids, ensuring the continued operation of the brain's neurons.

With the continuing efforts of the medical community and the ongoing strong financial support towards such research, accurate diagnosis, treatment, and even a cure for this disorder can be a reality.