{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T11:09:15Z","timestamp":1785150555052,"version":"3.55.0"},"reference-count":32,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,9,19]],"date-time":"2025-09-19T00:00:00Z","timestamp":1758240000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Acid sphingomyelinase deficiency (ASMD), or Niemann\u2013Pick 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\u2010central nervous system (CNS) manifestations of ASMD marked a major advance, with trials showing improvements in organ volumes and lung function. This meta\u2010analysis evaluates the broader clinical impact of olipudase alfa in ASMD. A systematic search of Cochrane, PubMed, and Embase identified RCTs and cohort studies on olipudase alfa in patients with ASMD. Primary outcomes included mean change in %DLco, %Liver volume, and %Spleen volume; other secondary outcomes were also assessed. Study selection followed PRISMA guidelines, and statistical analyses were conducted using R software. The study was registered in PROSPERO CRD420251032281. Three studies (One RCT) encompassing 46 patients were included. Follow\u2010up duration ranged from 1 to 6.5\u2009years. All patients received olipudase alfa; only one study included a placebo group. Pooled results showed a mean DLco increase of 34.63% (95% CI: 26.09\u201343.18), a liver volume reduction of \u221237.76% (95% CI: \u221249.78 to \u221225.75), and a spleen volume reduction of \u221249.46% (95% CI: \u221257.39 to \u221241.53) after 2\u2009years. The olipudase alfa demonstrates substantial clinical benefits in ASMD, significantly improving lung function and reducing organomegaly. Further studies are needed to confirm long\u2010term safety and efficacy.<\/jats:p>","DOI":"10.1002\/ajmg.a.64258","type":"journal-article","created":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T05:04:13Z","timestamp":1758344653000},"page":"279-290","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Efficacy and Safety of Olipudase Alfa for the Treatment of Acid Sphingomyelinase Deficiency (\n                    <scp>ASMD<\/scp>\n                    ): A Systematic Review and Meta\u2010Analysis"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-4309-4583","authenticated-orcid":false,"given":"Breno Bopp","family":"Antonello","sequence":"first","affiliation":[{"name":"Franciscan University  Santa Maria Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3334-2130","authenticated-orcid":false,"given":"Giovanna","family":"Giovacchini","sequence":"additional","affiliation":[{"name":"Faculty of Medicine of ABC  Santo Andr\u00e9 Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-2097-3290","authenticated-orcid":false,"given":"Anna Luiza Braga","family":"Albuquerque","sequence":"additional","affiliation":[{"name":"Federal University of Minas Gerais  Belo Horizonte Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cain\u00e3 Gon\u00e7alves","family":"Rodrigues","sequence":"additional","affiliation":[{"name":"Federal University of Cear\u00e1  Fortaleza Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura Grespan","family":"Dill","sequence":"additional","affiliation":[{"name":"Federal University of Santa Maria  Santa Maria Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Inez","family":"Dacoregio","sequence":"additional","affiliation":[{"name":"University of S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6323-2234","authenticated-orcid":false,"given":"Paulo Victor Zattar","family":"Ribeiro","sequence":"additional","affiliation":[{"name":"University of S\u00e3o Paulo  Ribeir\u00e3o Preto Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,9,19]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010022\u201002587\u20100"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010021\u201001156\u20103"},{"key":"e_1_2_13_4_1","volume-title":"Xenpozyme\u2014European Medicines Agency","author":"EMA","year":"2022"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2024.101120"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.hs9.0000844072.97072.69"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj\u20102023\u2010076335"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.heliyon.2024.e28123"},{"key":"e_1_2_13_9_1","unstructured":"Higgins J. P. T. T.Li andJ. J.Deeks.2023.\u201cChapter\u00a06: Choosing Effect Measures and Computing Estimates of Effect |Cochrane.\u201dwww.cochrane.org\/authors\/handbooks\u2010and\u2010manuals\/handbook\/current\/chapter\u201006#section\u20106\u20105\u20102."},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40265\u2010022\u201001727\u2010x"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2014.08.004"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010022\u201002560\u2010x"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010023\u201002700\u2010x"},{"key":"e_1_2_13_14_1","unstructured":"Linton M. F. P. G.Yancey S. S.Davies et\u00a0al.2019.\u201cThe Role of Lipids and Lipoproteins in Atherosclerosis.\u201dhttps:\/\/www.ncbi.nlm.nih.gov\/books\/NBK343489\/."},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.3390\/biomedicines11051434"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010017\u20100572\u2010x"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.7"},{"key":"e_1_2_13_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010024\u201003174\u20101"},{"key":"e_1_2_13_19_1","unstructured":"Modi P. andM.Cascella.2024.\u201cDiffusing Capacity of the Lungs For Carbon Monoxide.\u201dhttp:\/\/www.ncbi.nlm.nih.gov\/books\/nbk556149\/."},{"key":"e_1_2_13_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/ptj\/89.9.873"},{"key":"e_1_2_13_21_1","doi-asserted-by":"publisher","DOI":"10.48101\/ujms.v128.9785"},{"key":"e_1_2_13_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/liv.15133"},{"key":"e_1_2_13_23_1","unstructured":"NORD. n.d.\u201cAcid Sphingomyelinase Deficiency. NORD (National Organization for Rare Disorders).\u201dhttps:\/\/rarediseases.org\/rare\u2010diseases\/acid\u2010sphingomyelinase\u2010deficiency\/."},{"key":"e_1_2_13_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2023.100957"},{"key":"e_1_2_13_25_1","unstructured":"PubChem.2025.\u201cOlipudase Alfa.\u201dpubchem.ncbi.nlm.nih.gov\/substance\/347911391."},{"key":"e_1_2_13_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.12.008"},{"key":"e_1_2_13_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2025.10121"},{"key":"e_1_2_13_28_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.i4919"},{"key":"e_1_2_13_29_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.l4898"},{"key":"e_1_2_13_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010017\u20100123\u20106"},{"key":"e_1_2_13_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.03.021"},{"key":"e_1_2_13_32_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010023\u201002983\u20100"},{"key":"e_1_2_13_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2015.05.013"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.64258","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T13:39:45Z","timestamp":1767620385000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.64258"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,19]]},"references-count":32,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,2]]}},"alternative-id":["10.1002\/ajmg.a.64258"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.64258","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,19]]},"assertion":[{"value":"2025-06-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-08","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-19","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}