{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T13:21:27Z","timestamp":1782220887598,"version":"3.54.5"},"reference-count":21,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2023,4,15]],"date-time":"2023-04-15T00:00:00Z","timestamp":1681516800000},"content-version":"vor","delay-in-days":1,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/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":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,9,29]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficient \u03b1-galactosidase A activity. The spectrum of disease includes phenotypes ranging from \u201cclassic\u201d to \u201clater-onset,\u201d with varying kidney disease progression. Identifying patterns of declining kidney function and involvement of other major organs in patients with FD is important to guide therapy decisions.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Clusters of patients with FD and similar estimated glomerular filtration rate (eGFR) decline and age were created using agglomerative clustering of data captured between 2007 and 2020 in the United States Optum Market Clarity database. Male patients with a diagnosis of FD and two or more eGFR values \u22656 months apart were included. Disease progression was compared with a control cohort of patients without an FD diagnosis.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>eGFR values from 234 male patients with FD were analysed, yielding seven clusters. Five clusters demonstrated disease progression from \u201cnatural\u201d eGFR decline, with a slight decrease in kidney function and eGFR usually within the normal range, to rapid, early decline in eGFR and cardiac complications. When compared with the control cohort, a more rapid decline and a higher percentage of cardiac hypertrophy, heart failure, arrhythmias and stroke were noted in the study group. An inflection point was observed in each cluster when deterioration of kidney function accelerated.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Clustering of male patients with FD by decline in kidney function, organ involvement and phenotype through analysis of real-world data provides a reference that could help determine the optimal time for initiation of FD-specific treatment and facilitate management decisions made by healthcare professionals.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ndt\/gfad071","type":"journal-article","created":{"date-parts":[[2023,4,16]],"date-time":"2023-04-16T05:57:58Z","timestamp":1681624678000},"page":"2350-2357","source":"Crossref","is-referenced-by-count":4,"title":["Cluster analysis of kidney function decline among males with Fabry disease in a large United States electronic health records database"],"prefix":"10.1093","volume":"38","author":[{"given":"Alexandra","family":"Chiorean","sequence":"first","affiliation":[{"name":"Quinten Health , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Lyn","sequence":"additional","affiliation":[{"name":"Health Economics and Value Assessment, Sanofi , Cambridge, MA , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaum","family":"Kabadi","sequence":"additional","affiliation":[{"name":"Real-World Evidence Team , Sanofi, Bridgewater, NJ , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margot","family":"Blanchon","sequence":"additional","affiliation":[{"name":"Quinten Health , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Hayat","sequence":"additional","affiliation":[{"name":"Quinten Health , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Loustalot","sequence":"additional","affiliation":[{"name":"Quinten Health , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manish","family":"Maski","sequence":"additional","affiliation":[{"name":"Global Medical Affairs Rare Nephrology, Sanofi , Cambridge , MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Montmerle","sequence":"additional","affiliation":[{"name":"Quinten Health , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elvira","family":"Ponce","sequence":"additional","affiliation":[{"name":"Global Medical Affairs Rare Nephrology, Sanofi , Cambridge , MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,4,14]]},"reference":[{"key":"2023092902514034900_bib1","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1016\/j.ymgme.2018.02.014","article-title":"Fabry disease revisited: management and treatment recommendations for adult patients","volume":"123","author":"Ortiz","year":"2018","journal-title":"Mol Genet Metab"},{"key":"2023092902514034900_bib2","article-title":"OMIM: Online Mendelian Inheritance in Man"},{"key":"2023092902514034900_bib3","doi-asserted-by":"crossref","first-page":"1631","DOI":"10.1681\/ASN.2016090964","article-title":"Characterization of classical and nonclassical Fabry disease: a multicenter study","volume":"28","author":"Arends","year":"2017","journal-title":"J Am Soc Nephrol"},{"key":"2023092902514034900_bib4","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1186\/s13023-016-0473-4","article-title":"Multicenter Female Fabry Study (MFFS) \u2013 clinical survey on current treatment of females with Fabry disease","volume":"11","author":"Lenders","year":"2016","journal-title":"Orphanet J Rare Dis"},{"key":"2023092902514034900_bib5","article-title":"International statistical classification of diseases and related health problems, ICD","author":"World Health Organization"},{"key":"2023092902514034900_bib6","author":"Fabrazyme Prescribing Information"},{"key":"2023092902514034900_bib7","author":"Galafold Prescribing Information"},{"key":"2023092902514034900_bib8","author":"Healthcare Common Procedures Coding System"},{"key":"2023092902514034900_bib9","author":"Current Procedural Terminology Codes"},{"key":"2023092902514034900_bib10","author":"National Drug Code Directory"},{"key":"2023092902514034900_bib11","doi-asserted-by":"crossref","first-page":"929","DOI":"10.7326\/0003-4819-141-12-200412210-00009","article-title":"Using serum creatinine to estimate glomerular filtration rate: accuracy in good health and in chronic kidney disease","volume":"141","author":"Rule","year":"2004","journal-title":"Ann Intern Med"},{"key":"2023092902514034900_bib12","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/1471-2369-10-16","article-title":"Accuracy and limitations of equations for predicting the glomerular filtration rate during follow-up of patients with non-diabetic nephropathies","volume":"10","author":"Rostoker","year":"2009","journal-title":"BMC Nephrol"},{"key":"2023092902514034900_bib13","doi-asserted-by":"crossref","DOI":"10.1007\/978-0-387-84858-7","volume-title":"The Elements of Statistical Learning: Data Mining, Inference, and Prediction","author":"Hastie","year":"2009","edition":"2nd edn"},{"key":"2023092902514034900_bib14","doi-asserted-by":"crossref","first-page":"2220","DOI":"10.2215\/CJN.04340510","article-title":"Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry","volume":"5","author":"Wanner","year":"2010","journal-title":"Clin J Am Soc Nephrol"},{"key":"2023092902514034900_bib15","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1136\/jmedgenet-2015-103486","article-title":"Time to treatment benefit for adult patients with Fabry disease receiving agalsidase \u03b2: data from the Fabry Registry","volume":"53","author":"Ortiz","year":"2016","journal-title":"J Med Genet"},{"key":"2023092902514034900_bib16","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1002\/mgg3.389","article-title":"Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: a multicenter Fabry Registry study","volume":"6","author":"Germain","year":"2018","journal-title":"Mol Genet Genomic Med"},{"key":"2023092902514034900_bib17","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1093\/ndt\/gfp554","article-title":"End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry","volume":"25","author":"Ortiz","year":"2010","journal-title":"Nephrol Dial Transplant"},{"key":"2023092902514034900_bib18","doi-asserted-by":"crossref","first-page":"1600","DOI":"10.1093\/ndt\/gfm848","article-title":"Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy","volume":"23","author":"Ortiz","year":"2008","journal-title":"Nephrol Dial Transplant"},{"key":"2023092902514034900_bib19","doi-asserted-by":"crossref","first-page":"1507","DOI":"10.1093\/ndt\/gfp658","article-title":"Monitoring renal function in children with Fabry disease: comparisons of measured and creatinine-based estimated glomerular filtration rate","volume":"25","author":"T\u00f8ndel","year":"2010","journal-title":"Nephrol Dial Transplant"},{"key":"2023092902514034900_bib20","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1016\/j.diabet.2011.05.002","article-title":"Estimation of renal function in patients with diabetes","volume":"37","author":"Rigalleau","year":"2011","journal-title":"Diabetes Metab"},{"key":"2023092902514034900_bib21","doi-asserted-by":"crossref","first-page":"1530","DOI":"10.2174\/0929867324666170616102112","article-title":"Biomarkers for diagnosing and staging of Fabry disease","volume":"25","author":"Kramer","year":"2018","journal-title":"Curr Med Chem"}],"container-title":["Nephrology Dialysis Transplantation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/ndt\/advance-article-pdf\/doi\/10.1093\/ndt\/gfad071\/50475236\/gfad071.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ndt\/article-pdf\/38\/10\/2350\/51786723\/gfad071.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ndt\/article-pdf\/38\/10\/2350\/51786723\/gfad071.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T02:54:34Z","timestamp":1695956074000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ndt\/article\/38\/10\/2350\/7120054"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4,14]]},"references-count":21,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2023,4,14]]},"published-print":{"date-parts":[[2023,9,29]]}},"URL":"https:\/\/doi.org\/10.1093\/ndt\/gfad071","relation":{},"ISSN":["0931-0509","1460-2385"],"issn-type":[{"value":"0931-0509","type":"print"},{"value":"1460-2385","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2023,10]]},"published":{"date-parts":[[2023,4,14]]}}}