A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency

This phase 3 trial of enzyme-replacement therapy in children and adults with lysosomal acid lipase deficiency, which causes cirrhosis and severe dyslipidemia, showed that enzyme replacement lessened multiple disease-related hepatic and lipid abnormalities. Lysosomal acid lipase deficiency (Online Mendelian Inheritance in Man number, 278000) 1 is an autosomal recessive storage disease that is caused by mutations in the LIPA gene. 2 In infants, progression of the disease (historically known as Wolman’s disease) is very rapid, with death typically occurring by 6 months of age. 2 In older patients, progression of the disease (historically known as cholesteryl ester storage disease) leads to cirrhosis and other complications in childhood or later in life. 3 Common features in infants, children, and adults include elevated serum aminotransferase levels, dyslipidemia, hepatomegaly, liver fibrosis, and cirrhosis. 3 – 5 Awareness of the disease is low, . . .