Clinical trials paediatric metabolic diseases

A long-term Study to Assess the Ongoing safety and Efficacy of Olipudase Alfa in patients With Acid Sphingomyelinase Deficiency (Sanofi)

Principal Investigator: Prof. Peter Witters

Human acid sphingomyelinase deficiency (ASMD), also diagnosed as Niemann-Pick disease (NP type B), is a rare, serious life-threatening lysosomal storage disease. The disease is caused by mutations in the SMPD1 gene, encoding the sphingomyelinase enzyme. This enzyme normally breaks down sphingomyelin. In patients with ASMD, this enzyme works less, or not anymore, resulting in lysosomal accumulation of sphingomyelin in the organs. This also causes an increase in cholesterol and other lipids in the organs, such as the spleen, liver, lungs and bone marrow. Most common complaints are organomegaly (hepatosplenomegaly), liver dysfunction, lung disease and growth retardation.

Last edit: 7 October 2020