Spotlight on Niemann-Pick disease type C

With a diagnosis of Niemann-Pick disease type C, patients and families can have many questions:

  • What causes NPC?
  • What are the symptoms?
  • Is there research underway to try to find a treatment?

The first step is getting the information you need.

Understanding Niemann-Pick disease type C

  • Niemann-Pick disease type C (NPC) is a rare genetic disease characterized by the body's inability to transport cholesterol and other fats and oils inside of cells.
  • It is caused by a mutation in a gene called NPC1 or a second gene called NPC2.
  • NPC causes excessive amounts of cholesterol and other fats to accumulate in organs in the body including the liver, spleen, lungs and brain.
  • Because NPC is so rare, it is often misdiagnosed.
  • There are currently no approved treatments for NPC in the U.S. and limited options in the rest of the world.