Niemann-Pick Disease (NPD) is a cluster of rare, genetically inherited lysosomal storage disorders characterized by the pathological accumulation of lipids within various organs. This buildup leads to progressive multisystem dysfunction, with severity and progression varying significantly across subtypes. While individually rare, Niemann-Pick diseases collectively represent a significant challenge in rare disease diagnosis and management, due to both their complex pathophysiology and limited treatment options.
Globally, the prevalence remains low but clinically significant—Types A and B affect approximately 1 in 250K individuals, while Type C is slightly more commo...
