{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,22]],"date-time":"2026-08-22T12:09:13Z","timestamp":1787400553145,"version":"build-2736575974"},"reference-count":48,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,7,19]],"date-time":"2024-07-19T00:00:00Z","timestamp":1721347200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100015362","name":"Amicus Therapeutics","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015362","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":[[2025,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fabry disease is a progressive, X\u2010linked lysosomal disorder caused by reduced or absent \u03b1\u2010galactosidase A activity due to <jats:italic>GLA<\/jats:italic> variants. The effects of migalastat were examined in a cohort of 125 Fabry patients with migalastat\u2010amenable <jats:italic>GLA<\/jats:italic> variants in the followME Pathfinders registry (EUPAS20599), an ongoing, prospective, patient\u2010focused registry evaluating outcomes for current Fabry disease treatments. We report annualised estimated glomerular filtration rate (eGFR) and Fabry\u2010associated clinical events (FACEs) in a cohort of patients who had received \u22653\u2009years of migalastat treatment in a real\u2010world setting. As of August 2022, 125 patients (60% male) had a mean migalastat exposure of 3.9\u2009years. At enrolment, median age was 58\u2009years (males, 57; females, 60) with a mean eGFR of 83.7\u2009mL\/min\/1.73\u2009m<jats:sup>2<\/jats:sup> (<jats:italic>n<\/jats:italic>\u2009=\u2009122; males, 83.7; females, 83.8) and a median left ventricular mass index of 115.1\u2009g\/m<jats:sup>2<\/jats:sup> (<jats:italic>n<\/jats:italic>\u2009=\u200961; males, 131.2; females, 98.0). Mean (95% confidence interval) eGFR annualised rate of change in the overall cohort (<jats:italic>n<\/jats:italic>\u2009=\u2009116) was \u22120.9 (\u221210.8, 9.9) mL\/min\/1.73\u2009m<jats:sup>2<\/jats:sup>\/year with a similar rate of change observed across patients with varying levels of kidney function at enrolment. Despite population age and baseline morbidity, 80% of patients did not experience a FACE during the mean 3.9\u2009years of migalastat exposure. The incidence of renal, cardiac, and cerebrovascular events was 2.0, 83.2, and 4.1 events per 1000 patient\u2010years, respectively. These data support a role of migalastat in preserving renal function and multisystem effectiveness during \u22653\u2009years of migalastat treatment in this real\u2010world Fabry population.<\/jats:p>","DOI":"10.1002\/jimd.12771","type":"journal-article","created":{"date-parts":[[2024,7,19]],"date-time":"2024-07-19T06:23:50Z","timestamp":1721370230000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Renal and multisystem effectiveness of 3.9\u2009years of migalastat in a global real\u2010world cohort: Results from the <scp>followME<\/scp> Fabry <scp>Pathfinders<\/scp> registry"],"prefix":"10.1002","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4531-9173","authenticated-orcid":false,"given":"Derralynn A.","family":"Hughes","sequence":"first","affiliation":[{"name":"Lysosomal Storage Disorders Unit Royal Free London NHS Foundation Trust and University College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gere","family":"Sunder\u2010Plassmann","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Dialysis, Department of Medicine III Medical University of Vienna  Vienna Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Jovanovic","sequence":"additional","affiliation":[{"name":"Northern Care Alliance NHS Foundation Trust  Salford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Brand","sequence":"additional","affiliation":[{"name":"Internal Medicine D, Department of Nephrology, Hypertension and Rheumatology, Interdisciplinary Fabry Center M\u00fcnster University Hospital M\u00fcnster  M\u00fcnster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael L.","family":"West","sequence":"additional","affiliation":[{"name":"Department of Medicine Dalhousie University  Halifax Nova Scotia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel G.","family":"Bichet","sequence":"additional","affiliation":[{"name":"Department of Medicine, H\u00f4pital du Sacr\u00e9\u2010Coeur University of Montr\u00e9al  Montr\u00e9al Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Pisani","sequence":"additional","affiliation":[{"name":"Department of Public Health, Nephrology Unit Federico II University Hospital  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albina","family":"Nowak","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Clinical Nutrition University Hospital Zurich and University of Zurich  Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roser","family":"Torra","sequence":"additional","affiliation":[{"name":"Inherited Kidney Diseases, Nephrology Department, Fundaci\u00f3 Puigvert, Institut d'Investigacions Biom\u00e8diques (IIB\u2010Snt Pau), Department of Medicine Universitat Aut\u00f2noma de Barcelona  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aneal","family":"Khan","sequence":"additional","affiliation":[{"name":"M.A.G.I.C. 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