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.