Long-Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase Deficiency.

ABSTRACT: Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disease characterized by hepatosplenomegaly, pulmonary dysfunction, dyslipidemia, and growth deficits. Olipudase alfa (recombinant-human ASM) is the only treatment for non-central-nervous-system ASMD manifestations in children and adults. An open-label long-term study followed 4 to 8 years of olipudase alfa treatment in 20 children and adolescents with ASMD (baseline age (years) 1.5-17.5). At final assessments, splenomegaly and hepatomegaly were reduced relative to baseline (mean percent decrease in spleen and liver volumes 78% ± 1.2% and 59.8% ± 1.5%, respectively). Baseline splenomegaly was severe (spleen volume > 15 MN [multiples of normal]) or moderate (5-15 MN) (n = 12 and n = 8, respectively) versus mild/absent (< 5

SUBMITTER: Scarpa M 

PROVIDER: S-EPMC12426810 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature