Niemann-Pick Disease

May 02, 2025

Niemann-Pick disease type C (NPC) is a rare, aggressive, and life-threatening neurovisceral disorder with a profound impact on both patients and the healthcare system. Caused by mutations in the NPC1 or NPC2 genes, NPC disrupts intracellular lipid transport, leading to toxic accumulation of cholesterol and other li...

Nov 03, 2023

Niemann-Pick disease type C (NPC) is a rare genetic disorder caused by mutations in cholesterol trafficking proteins. There are two main types, with Type C1 being the most prevalent, accounting for around 95% of cases. While specific epidemiological data on NPC is limited, estimates suggest a prevalence of approxim...