What is Niemann-Pick Disease Type C?
Niemann-Pick disease type C (NPC) is a disorder that prevents the body from carrying lipids inside of cells. NPC is caused by mutations in the NPC1 and NPC2 gene.
Patients who inherit Niemann-Pick disease Type C may experience the first symptoms of the disease at any age.
How to diagnose?
Niemann-Pick disease is currently included in the newborn screening, and it may also be diagnosed through a blood test, biopsy, MRI, or genetic testing.
What is the treatment?
Type C patients may be able to slow disease development with oral therapy.
Type C (NPC)
500+Estimated Cases Worlwide
*See details for each type
Oral Treatments for Type C