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Efficacy and Safety of Olipudase Alfa for the Treatment of Acid Sphingomyelinase Deficiency (ASMD): A Systematic Review and Meta-Analysis.

American journal of medical genetics. Part A - 1 Feb 2026

Antonello Breno Bopp, Giovacchini Giovanna, Albuquerque Anna Luiza Braga, Rodrigues Cainã Gonçalves, Dill Laura Grespan, Dacoregio Maria Inez, Ribeiro Paulo Victor Zattar

Abstract excerpt

Acid sphingomyelinase deficiency (ASMD), or Niemann-Pick disease types A, B, and A/B, is a rare lysosomal storage disorder caused by SMPD1 mutations. Clinical forms range from severe neurovisceral (type A) to chronic visceral (type B), mainly affecting the liver, spleen, and lungs. Until 2022, treatment was limited to supportive care. The approval of olipudase alfa for the non-central nervous system (CNS)...

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Share to Enzyme Replacement Therapy
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40974024
DOI: 10.1002/ajmg.a.64258

Genes

SMPD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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