Acid Sphingomyelinase Deficiency NFZ — 17 facilities in 16 cities

Acid sphingomyelinase deficiency (Niemann-Pick disease type A and B) is a rare lysosomal storage disorder leading to sphingomyelin accumulation in the liver, spleen, lungs, and brain. It causes organ enlargement, interstitial lung disease, and neurological impairment. NFZ covers enzymatic and genetic diagnostics, as well as enzyme replacement therapy (olipudase alfa) through a drug program.