Niemann-Pick disease type C

Niemann-Pick disease type C is a rare and fatal genetic disease with a prevalence of 100,000 cases worldwide. Because NPC patients lack the NPC protein that is responsible for cholesterol processing in the cells, which affects every cell in the body. Defects in the NPC protein cause abnormal accumulation of cholesterol in every cell in the body, leading to symptoms in the brain, liver, spleen, lungs and other organs.