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 lipids, especially in the brain and visceral organs. The disease’s complexity, variability in presentation, and lack of early biomarkers result in frequent misdiagnosis and delayed care. With a reported incidence of 1 in 100,000–120,000 live births (NORD), the true prevalence is likely underestimated. The burden of long-term supportive care, repeated hospitali...
