{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:38:47Z","timestamp":1786977527643,"version":"build-2736575974"},"reference-count":35,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,4,27]],"date-time":"2020-04-27T00:00:00Z","timestamp":1587945600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["ascpt.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clin Pharma and Therapeutics"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:p>\n                    Fabry's disease (FD) is an X\u2010linked lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme \u03b1\u2010galactosidase A (\u03b1\u2010Gal A) leading to intracellular accumulation of globotriaosylceramide (Gb3). Patients with amenable mutations can be treated with migalastat, a recently approved oral pharmacologic chaperone to increase endogenous \u03b1\u2010Gal A activity. We assessed safety along with cardiovascular, renal, and patient\u2010reported outcomes and disease biomarkers in a prospective observational multicenter study after 12\u00a0months of migalastat treatment under \u201creal\u2010world\u201d conditions. Fifty\u2010nine (28 females) patients (34 (57.6%) pretreated with enzyme replacement therapy) with amenable mutations were recruited. Migalastat was generally safe and well tolerated. Females and males presented with a reduction of left ventricular mass index (primary end point) (\u22127.2 and \u221213.7\u00a0g\/m\n                    <jats:sup>2<\/jats:sup>\n                    ,\n                    <jats:italic>P<\/jats:italic>\n                    \u00a0=\u00a00.0050 and\n                    <jats:italic>P<\/jats:italic>\n                    \u00a0=\u00a00.0061). FD\u2010specific manifestations and symptoms remained stable (all\n                    <jats:italic>P<\/jats:italic>\n                    &gt;\u00a00.05). Both sexes presented with a reduction of estimated glomerular filtration rate (secondary end point) (\u22126.9 and \u22125.0\u00a0mL\/minute\/1.73 m\n                    <jats:sup>2<\/jats:sup>\n                    ;\n                    <jats:italic>P<\/jats:italic>\n                    \u00a0=\u00a00.0020 and\n                    <jats:italic>P<\/jats:italic>\n                    \u00a0=\u00a00.0004, respectively), which was most prominent in patients with low blood pressure (\n                    <jats:italic>P<\/jats:italic>\n                    \u00a0=\u00a00.0271). \u03b1\u2010Gal A activity increased in male patients by 15% from 29% to 44% of the normal wild\u2010type activity (\n                    <jats:italic>P<\/jats:italic>\n                    \u00a0=\u00a00.0106) and plasma lyso\u2010Gb3 levels were stable in females and males (\n                    <jats:italic>P<\/jats:italic>\n                    \u00a0=\u00a00.3490 and\n                    <jats:italic>P<\/jats:italic>\n                    \u00a0=\u00a00.2009). Reevaluation of mutations with poor biochemical response revealed no marked activity increase in a zero activity background. We conclude that therapy with migalastat was generally safe and resulted in an amelioration of left ventricular mass. In terms of impaired renal function, blood pressure control seems to be an unattended important goal.\n                  <\/jats:p>","DOI":"10.1002\/cpt.1832","type":"journal-article","created":{"date-parts":[[2020,3,21]],"date-time":"2020-03-21T05:11:21Z","timestamp":1584767481000},"page":"326-337","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":62,"title":["Treatment of Fabry's Disease With Migalastat: Outcome From a Prospective Observational Multicenter Study (FAMOUS)"],"prefix":"10.1111","volume":"108","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8409-2886","authenticated-orcid":false,"given":"Malte","family":"Lenders","sequence":"first","affiliation":[{"name":"Department of Internal Medicine D, and Interdisciplinary Fabry Center (IFAZ) University Hospital M\u00fcnster M\u00fcnster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2560-4068","authenticated-orcid":false,"given":"Peter","family":"Nordbeck","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine I Comprehensive Heart Failure Center, and Fabry Center for Interdisciplinary Therapy (FAZIT) University of W\u00fcrzburg W\u00fcrzburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Kurschat","sequence":"additional","affiliation":[{"name":"Department II of Internal Medicine Center for Molecular Medicine Cologne and Center for Rare Diseases University of Cologne Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nesrin","family":"Karabul","sequence":"additional","affiliation":[{"name":"Endokrinologikum Frankfurt Center of Hormonal and Metabolic Diseases Rheumatology, Osteology and Neurology Frankfurt Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Kaufeld","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Hypertension Hannover Medical School Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia B.","family":"Hennermann","sequence":"additional","affiliation":[{"name":"Villa Metabolica Department for Pediatric and Adolescent Medicine University Medical Center Mainz Mainz Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Patten","sequence":"additional","affiliation":[{"name":"Department of General and Interventional Cardiology University Heart Center Hamburg Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Cybulla","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Rheumatology FGM, Center of Internal Medicine M\u00fcllheim Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonas","family":"M\u00fcntze","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine I Comprehensive Heart Failure Center, and Fabry Center for Interdisciplinary Therapy (FAZIT) University of W\u00fcrzburg W\u00fcrzburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nurcan","family":"\u00dc\u00e7eyler","sequence":"additional","affiliation":[{"name":"Department of Neurology University of W\u00fcrzburg W\u00fcrzburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine I Comprehensive Heart Failure Center, and Fabry Center for Interdisciplinary Therapy (FAZIT) University of W\u00fcrzburg W\u00fcrzburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anibh M.","family":"Das","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Hannover Medical School Hannover Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Sommer","sequence":"additional","affiliation":[{"name":"Department of Neurology University of W\u00fcrzburg W\u00fcrzburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Pogoda","sequence":"additional","affiliation":[{"name":"Department of Cardiology I \u2013 Coronary and Peripheral Vascular Disease Heart Failure, and Interdisciplinary Fabry Center (IFAZ) University Hospital M\u00fcnster M\u00fcnster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefanie","family":"Reiermann","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine D, and Interdisciplinary Fabry Center (IFAZ) University Hospital M\u00fcnster M\u00fcnster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Duning","sequence":"additional","affiliation":[{"name":"Department of Neurology, and Interdisciplinary Fabry Center (IFAZ) University Hospital M\u00fcnster M\u00fcnster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jens","family":"Gaedeke","sequence":"additional","affiliation":[{"name":"Department of Medicine Division of Nephrology Charit\u00e9, Campus Virchow\u2010Klinikum Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina","family":"Stumpfe","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Medical Center Hamburg Eppendorf, Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Blaschke","sequence":"additional","affiliation":[{"name":"Department of Medicine Division of Cardiology Charit\u00e9, Campus Virchow\u2010Klinikum Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan\u2010Martin","family":"Brand","sequence":"additional","affiliation":[{"name":"Institute of Sports Medicine Molecular Genetics of Cardiovascular Disease, and Interdisciplinary Fabry Center (IFAZ) University Hospital M\u00fcnster M\u00fcnster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W. Alexander","family":"Mann","sequence":"additional","affiliation":[{"name":"Endokrinologikum Frankfurt Center of Hormonal and Metabolic Diseases Rheumatology, Osteology and Neurology Frankfurt Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"Kampmann","sequence":"additional","affiliation":[{"name":"Villa Metabolica Department for Pediatric and Adolescent Medicine University Medical Center Mainz Mainz Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Muschol","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Medical Center Hamburg Eppendorf, Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sima","family":"Canaan\u2010K\u00fchl","sequence":"additional","affiliation":[{"name":"Department of Medicine Division of Nephrology Charit\u00e9, Campus Virchow\u2010Klinikum Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Brand","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine D, and Interdisciplinary Fabry Center (IFAZ) University Hospital M\u00fcnster M\u00fcnster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,4,27]]},"reference":[{"key":"e_1_2_10_1_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)61589-5"},{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.10.006"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1021\/acs.analchem.7b03609"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200107053450102"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.285.21.2743"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-146-2-200701160-00148"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.2006.104026"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(09)61493-8"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001333"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2015030337"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-1077-0"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/mt.2009.220"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-91"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.01.009"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1510198"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-104178"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.122"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00219.x"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehy339"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2019-106005"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003632"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.116.001691"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/cpt.1321"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2010.11.018"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.53"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.108.794529"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2019.100454"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfp031"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-200203000-00003"},{"key":"e_1_2_10_30_1","first-page":"77","article-title":"Enzyme replacement therapy and renal function in 201 patients with Fabry disease","volume":"66","author":"Schwarting A.","year":"2006","journal-title":"Clin. 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