{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T16:00:24Z","timestamp":1791216024967,"version":"4.1.0"},"reference-count":45,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,1,13]],"date-time":"2019-01-13T00:00:00Z","timestamp":1547337600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"publisher","award":["01EO1504 MO.2"],"award-info":[{"award-number":["01EO1504 MO.2"]}],"id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["ascpt.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clin Pharma and Therapeutics"],"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:p>Long\u2010term effects of migalastat therapy in clinical practice are currently unknown. We evaluated migalastat efficacy and biomarker changes in a prospective, single\u2010center study on 14 patients with Fabry disease (55\u00a0\u00b1\u00a014\u00a0years; 11 men). After 1\u00a0year of open\u2010label migalastat therapy, patients showed significant changes in alpha\u2010galactosidase\u2010A activity (0.06\u20130.2\u00a0nmol\/minute\/mg protein; <jats:italic>P<\/jats:italic>\u00a0=\u00a00.001), left ventricular myocardial mass index (137\u2013130\u00a0g\/m<jats:sup>2<\/jats:sup>; <jats:italic>P<\/jats:italic>\u00a0=\u00a00.037), and serum creatinine (0.94\u20131.0\u00a0mg\/<jats:styled-content style=\"fixed-case\">dL<\/jats:styled-content>;<jats:italic> P<\/jats:italic>\u00a0=\u00a00.021), accounting for deterioration in estimated glomerular filtration rate (87\u201378\u00a0mL\/minute\/1.73\u00a0m<jats:sup>2<\/jats:sup>; <jats:italic>P<\/jats:italic>\u00a0=\u00a00.012). The enzymatic increase correlated with myocardial mass reduction (<jats:italic>r<\/jats:italic>\u00a0=\u00a0\u22120.546; <jats:italic>P<\/jats:italic>\u00a0=\u00a00.044) but not with renal function (<jats:italic>r<\/jats:italic>\u00a0=\u00a0\u22120.086; <jats:italic>P<\/jats:italic>\u00a0=\u00a00.770). Plasma globotriaosylsphingosine was reduced in therapy\u2010naive patients (10.9\u20136.0\u00a0ng\/mL; <jats:italic>P<\/jats:italic>\u00a0=\u00a00.021) and stable (9.6\u201312.1\u00a0ng\/mL; <jats:italic>P<\/jats:italic>\u00a0=\u00a00.607) in patients switched from prior enzyme\u2010replacement therapy. These first real\u2010world data show that migalastat substantially increases alpha\u2010galactosidase\u2010A activity, stabilizes related serum biomarkers, and improves cardiac integrity in male and female patients with amenable Fabry disease mutations.<\/jats:p>","DOI":"10.1002\/cpt.1321","type":"journal-article","created":{"date-parts":[[2018,12,3]],"date-time":"2018-12-03T08:19:28Z","timestamp":1543825168000},"page":"1224-1233","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":83,"title":["Oral Chaperone Therapy Migalastat for Treating Fabry Disease: Enzymatic Response and Serum Biomarker Changes After 1 Year"],"prefix":"10.1111","volume":"105","author":[{"given":"Jonas","family":"M\u00fcntze","sequence":"first","affiliation":[{"name":"Department of Internal Medicine I and Comprehensive Heart Failure Center University Hospital W\u00fcrzburg  W\u00fcrzburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Gensler","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine I and Comprehensive Heart Failure Center University Hospital W\u00fcrzburg  W\u00fcrzburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Octavian","family":"Maniuc","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine I and Comprehensive Heart Failure Center University Hospital W\u00fcrzburg  W\u00fcrzburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine I and Comprehensive Heart Failure Center University Hospital W\u00fcrzburg  W\u00fcrzburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tereza","family":"Cairns","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine I and Comprehensive Heart Failure Center University Hospital W\u00fcrzburg  W\u00fcrzburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Oder","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine I and Comprehensive Heart Failure Center University Hospital W\u00fcrzburg  W\u00fcrzburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine I and Comprehensive Heart Failure Center University Hospital W\u00fcrzburg  W\u00fcrzburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina","family":"Lorenz","sequence":"additional","affiliation":[{"name":"Leibniz\u2010Institut f\u00fcr Analytische Wissenschaften\u2010ISAS\u2010e.V.  Dortmund Germany"},{"name":"West German Heart and Vascular Center Essen University Hospital Essen  Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Frantz","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine I and Comprehensive Heart Failure Center University Hospital W\u00fcrzburg  W\u00fcrzburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"Wanner","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine I and Comprehensive Heart Failure Center University Hospital W\u00fcrzburg  W\u00fcrzburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Nordbeck","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine I and Comprehensive Heart Failure Center University Hospital W\u00fcrzburg  W\u00fcrzburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,1,13]]},"reference":[{"key":"e_1_2_11_1_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196705252762101"},{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-138-4-200302180-00014"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfm848"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.116.001691"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200107053450102"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.285.21.2743"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/joim.12647"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/4801"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-1077-0"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.5414\/CPP47111"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1510198"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21530"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.122"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2014121226"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2011.06.026"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.2005.071233"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/cpdd.1"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-91"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.01.009"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-30"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/cpt.790"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0712309105"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-104178"},{"key":"e_1_2_11_24_1","first-page":"8","article-title":"Gene mutations versus clinically relevant phenotypes: lyso\u2010Gb3 defines Fabry disease","volume":"7","author":"Niemann M.","year":"2014","journal-title":"Circ. Genom. Precis. Med."},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000091253.71282.04"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0338-2"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehy072"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjcard.2012.08.055"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1161\/JAHA.115.002839"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2006111263"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(09)61493-8"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-150-9-200905050-00006"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfp031"},{"key":"e_1_2_11_34_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199604113341502"},{"key":"e_1_2_11_35_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-013-9653-8"},{"key":"e_1_2_11_36_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00457.x"},{"key":"e_1_2_11_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/247563a0"},{"key":"e_1_2_11_38_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.750"},{"key":"e_1_2_11_39_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-200203000-00003"},{"key":"e_1_2_11_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22910"},{"key":"e_1_2_11_41_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmjopen-2015-010422"},{"key":"e_1_2_11_42_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000010669"},{"key":"e_1_2_11_43_1","doi-asserted-by":"publisher","DOI":"10.1086\/504601"},{"key":"e_1_2_11_44_1","doi-asserted-by":"publisher","DOI":"10.1093\/ehjci\/jev014"},{"key":"e_1_2_11_45_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00392-018-1285-4"}],"container-title":["Clinical Pharmacology &amp; Therapeutics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fcpt.1321","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/cpt.1321","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/cpt.1321","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/ascpt.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/cpt.1321","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,7]],"date-time":"2023-11-07T13:31:24Z","timestamp":1699363884000},"score":1,"resource":{"primary":{"URL":"https:\/\/ascpt.onlinelibrary.wiley.com\/doi\/10.1002\/cpt.1321"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1,13]]},"references-count":45,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2019,5]]}},"alternative-id":["10.1002\/cpt.1321"],"URL":"https:\/\/doi.org\/10.1002\/cpt.1321","archive":["Portico"],"relation":{},"ISSN":["0009-9236","1532-6535"],"issn-type":[{"value":"0009-9236","type":"print"},{"value":"1532-6535","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,1,13]]},"assertion":[{"value":"2018-08-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-11-16","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-01-13","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}