{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T03:21:17Z","timestamp":1788837677468,"version":"build-2803163510"},"reference-count":22,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,5,8]],"date-time":"2020-05-08T00:00:00Z","timestamp":1588896000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100005646","name":"Actelion Pharmaceuticals","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005646","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Miglustat has been indicated for the treatment of Niemann\u2010Pick disease type C (NP\u2010C) since 2009. The aim of this observational study was to assess the effect of miglustat on long\u2010term survival of patients with NP\u2010C. Data for 789 patients from five large national cohorts and from the NPC Registry were collected and combined. Miglustat\u2010treated and untreated patients overall and within sub\u2010groups according to age\u2010at\u2010neurological\u2010onset, that is, early infantile\u2010onset (&lt;2\u2009years), late infantile\u2010onset (2 to &lt;6\u2009years), juvenile\u2010onset (6 to &lt;15\u2009years), and adolescent\/adult\u2010onset (\u226515\u2009years) were analysed and compared. Survival was analysed from the time of first neurological manifestation (Neurological onset group, comprising 669 patients) and from diagnosis (Diagnosis group, comprising 590 patients) using a Cox proportional hazard model adjusted for various covariates. Overall, 384 (57.4%) patients in the Neurological onset group and 329 (55.8%) in the Diagnosis group were treated with miglustat. Miglustat treatment was associated with a significant reduction in risk of mortality in both groups (entire Neurological onset group, Hazard ratio [HR] = 0.51; entire Diagnosis group, HR = 0.44; both <jats:italic>P<\/jats:italic> &lt;\u2009.001). The effect was observed consistently in all age\u2010at\u2010neurological\u2010onset sub\u2010groups (HRs = 0.3 to 0.7) and was statistically significant for late infantile\u2010onset patients in both groups (Neurological onset group, HR = 0.36, <jats:italic>P<\/jats:italic> &lt;\u2009.05; Diagnosis group, HR = 0.32, <jats:italic>P<\/jats:italic> &lt;\u2009.01), and juvenile\u2010onset patients in the Diagnosis group only (HR = 0.30, <jats:italic>P<\/jats:italic> &lt;\u2009.05). Despite the limitations of the data that urge cautious interpretation, the findings are consistent with a beneficial effect of miglustat on survival in patients with NP\u2010C.<\/jats:p>","DOI":"10.1002\/jimd.12245","type":"journal-article","created":{"date-parts":[[2020,4,23]],"date-time":"2020-04-23T15:50:10Z","timestamp":1587657010000},"page":"1060-1069","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":66,"title":["Long\u2010term survival outcomes of patients with <scp>Niemann\u2010Pick<\/scp> disease type C receiving miglustat treatment: A large retrospective observational study"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1116-126X","authenticated-orcid":false,"given":"Marc C.","family":"Patterson","sequence":"first","affiliation":[{"name":"Division of Child and Adolescent Neurology, Departments of Neurology, Pediatrics and Medical Genetics Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William S.","family":"Garver","sequence":"additional","affiliation":[{"name":"Department of Chemistry and Chemical Biology University of New Mexico  Albuquerque New Mexico USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Giugliani","sequence":"additional","affiliation":[{"name":"Medical Genetics Service  Porto Alegre Brazil"},{"name":"Department of Genetics UFRGS  Porto Alegre Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jackie","family":"Imrie","sequence":"additional","affiliation":[{"name":"Niemann\u2010Pick UK  Washington UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena","family":"Jahnova","sequence":"additional","affiliation":[{"name":"Department of Institute of Inherited Metabolic Disorders Charles University  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F John","family":"Meaney","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Arizona  Tucson Arizona USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yann","family":"Nadjar","sequence":"additional","affiliation":[{"name":"Department of Neurology Reference Center for Lysosomal Diseases (CRML), H\u00f4pital de la Piti\u00e9\u2010Salp\u00eatri\u00e8re  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie T.","family":"Vanier","sequence":"additional","affiliation":[{"name":"INSERM  Lyon France"},{"name":"Hopitaux de Lyon  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Moneuse","sequence":"additional","affiliation":[{"name":"Global Business and Science Affairs Actelion Pharmaceuticals Ltd.  Allschwil Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Morand","sequence":"additional","affiliation":[{"name":"Global Business and Science Affairs Actelion Pharmaceuticals Ltd.  Allschwil Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Rosenberg","sequence":"additional","affiliation":[{"name":"Epidemiology and Observational Studies, Actelion Pharmaceuticals Ltd., Allschwil  Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Schwierin","sequence":"additional","affiliation":[{"name":"Azafaros B.V, Leiden  The Netherlands"},{"name":"Sorbonne Universite  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benedicte","family":"H\u00e9ron","sequence":"additional","affiliation":[{"name":"Idorsia Pharmaceuticals Ltd.  Allschwil Switzerland"},{"name":"Department of Neuropediatrics, CRML, Hopital Armand\u2010Trousseau  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,5,8]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.25"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-16"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-12"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-015-0511-1"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31735"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.11.007"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.06.009"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0630-y"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33847"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.10.002"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9479-9"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-76"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-36"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-018-0913-4"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0284-z"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0140-6"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/ije\/31.6.1246"},{"key":"e_1_2_10_19_1","unstructured":"Powell TBM.Your \"survival\" guide to using time\u2010dependent covariates. 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