{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T20:24:51Z","timestamp":1793391891475,"version":"4.5.0"},"reference-count":31,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2024,4,30]],"date-time":"2024-04-30T00:00:00Z","timestamp":1714435200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004339","name":"Sanofi","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004339","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Gaucher disease type 1 (GD1) is known for phenotypic heterogeneity and varied natural history. Registrational clinical trials enrolled narrowly defined phenotypes, but greater diversity is encountered in clinical practice. We report real\u2010world outcomes with long\u2010term eliglustat treatment in adults with GD1 in the International Collaborative Gaucher Group Gaucher Registry. Among 5985 GD1 patients in the Registry as of January 6, 2023, 872 started eliglustat at \u226518\u2009years old; of these, 469 met inclusion criteria. We compared clinical parameters at eliglustat initiation (i.e., baseline) and follow\u2010up in treatment\u2010na\u00efve patients and used linear mixed models to estimate annual change from baseline in parameters among patients who switched to eliglustat after \u22651\u2009year on enzyme replacement therapy. Over 4\u2009years of follow\u2010up in non\u2010splenectomized treatment\u2010na\u00efve patients, hemoglobin and platelet count increased, liver and spleen volume decreased, and total lumbar spine bone mineral density (BMD) Z\u2010score decreased slightly. Among non\u2010splenectomized switch patients, on average, hemoglobin decreased \u22120.030 (95% CI: \u22120.053, \u22120.008) g\/dL (<jats:italic>N<\/jats:italic>\u2009=\u2009272) and platelet count increased 2.229 (95% CI: 0.751, 3.706)\u2009\u00d7\u200910<jats:sup>3<\/jats:sup>\/mm<jats:sup>3<\/jats:sup> (<jats:italic>N<\/jats:italic>\u2009=\u2009262) annually up to 10\u2009years; liver volume decreased (\u22120.009 [95% CI: \u22120.015, \u22120.003] MN) (<jats:italic>N<\/jats:italic>\u2009=\u2009102) and spleen volume remained stable (\u22120.070 [95% CI: \u22120.150, 0.010] MN) (<jats:italic>N<\/jats:italic>\u2009=\u2009106) annually up to 7\u2009years; and total lumbar spine BMD <jats:italic>Z<\/jats:italic>\u2010score increased 0.041 (95% CI: 0.015, 0.066) (<jats:italic>N<\/jats:italic>\u2009=\u2009183) annually up to 8\u2009years. Among splenectomized switch patients, clinical parameters were stable over time. These long\u2010term, real\u2010world outcomes are consistent with the eliglustat clinical trials and emerging real\u2010world experience across the GD phenotypic spectrum.<\/jats:p>","DOI":"10.1002\/ajh.27347","type":"journal-article","created":{"date-parts":[[2024,4,30]],"date-time":"2024-04-30T07:23:24Z","timestamp":1714461804000},"page":"1500-1510","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Long\u2010term effectiveness of eliglustat treatment: A real\u2010world analysis from the International Collaborative Gaucher Group Gaucher Registry"],"prefix":"10.1002","volume":"99","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3447-6421","authenticated-orcid":false,"given":"Pramod K.","family":"Mistry","sequence":"first","affiliation":[{"name":"Yale University School of Medicine  New Haven Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8047-5011","authenticated-orcid":false,"given":"Manisha","family":"Balwani","sequence":"additional","affiliation":[{"name":"Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joel","family":"Charrow","sequence":"additional","affiliation":[{"name":"Ann &amp; Robert H Lurie Children's Hospital of Chicago  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy","family":"Lorber","sequence":"additional","affiliation":[{"name":"Cedars\u2010Sinai Medical Center  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claus","family":"Niederau","sequence":"additional","affiliation":[{"name":"Katholisches Klinikum Oberhausen  Oberhausen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny L.","family":"Carwile","sequence":"additional","affiliation":[{"name":"Sanofi  Cambridge Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Oliveira\u2010dos\u2010Santos","sequence":"additional","affiliation":[{"name":"Sanofi  Sao Paolo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Gabriela","family":"Perichon","sequence":"additional","affiliation":[{"name":"Sanofi  Cambridge Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sefika","family":"Uslu Cil","sequence":"additional","affiliation":[{"name":"Sanofi  Cambridge Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8251-909X","authenticated-orcid":false,"given":"Priya S.","family":"Kishnani","sequence":"additional","affiliation":[{"name":"Duke University Medical Center  Durham North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,4,30]]},"reference":[{"key":"e_1_2_11_2_1","volume-title":"OMMBID: The Online Metabolic and Molecular Bases of Inherited Disease","author":"Grabowski GA","year":"2013"},{"issue":"6","key":"e_1_2_11_3_1","first-page":"1","article-title":"Disease state awareness in Gaucher disease: a Q&A expert roundtable discussion","volume":"10","author":"Mistry PK","year":"2012","journal-title":"Clin Adv Hematol Oncol"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.3021"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2014-09-600270"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature21368"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.160.18.2835"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-003-1362-0"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9343(02)01150-6"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9528-4"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2020.12.295"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.061004"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(96)04451-0"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/clpt.2013.2"},{"key":"e_1_2_11_15_1","unstructured":"CERDELGA\u2122 (Eliglustat) [Package Insert]. 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