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dc.contributor.authorBichet, Daniel G.pt_BR
dc.contributor.authorTorra, Roserpt_BR
dc.contributor.authorWallace, Ericpt_BR
dc.contributor.authorHughes, Derralynn A.pt_BR
dc.contributor.authorGiugliani, Robertopt_BR
dc.contributor.authorSkuban, Ninapt_BR
dc.contributor.authorKrusinska, Evapt_BR
dc.contributor.authorFeldt-Rasmussen, Ullapt_BR
dc.contributor.authorSchiffmann, Raphaelpt_BR
dc.contributor.authorNicholls, Kathypt_BR
dc.date.accessioned2022-01-27T04:33:41Zpt_BR
dc.date.issued2021pt_BR
dc.identifier.issn2214-4269pt_BR
dc.identifier.urihttp://hdl.handle.net/10183/234529pt_BR
dc.description.abstractThe effect of migalastat on long-term renal outcomes in enzyme replacement therapy (ERT)–naive and ERTexperienced patients with Fabry disease is not well defined. An integrated posthoc analysis of the phase 3 clinical trials and open-label extension studies was conducted to evaluate long-term changes in renal function in patients with Fabry disease and amenable GLA variants who were treated with migalastat for ≥2 years during these studies. The analysis included ERT-naive (n = 36 [23 females]; mean age 45 years; mean baseline estimated glomerular filtration rate (eGFR), 91.4 mL/min/mL/1.73 m2 ) and ERT-experienced (n = 42 [24 females]; mean age, 50 years; mean baseline eGFR, 89.2 mL/min/1.73m2 ) patients with amenable variants who received migalastat 123 mg every other day for ≥2 years. The annualized rate of change from baseline to last observation in estimated glomerular filtration rate using the Chronic Kidney Disease Epidemiology Collaboration equation (eGFRCKD-EPI) was calculated by both simple linear regression and a random coefficient model. In ERT-naive patients, mean annualized rates of change from baseline in eGFRCKD-EPI were − 1.6 mL/min/1.73 m2 overall and − 1.8 mL/min/1.73 m2 and − 1.4 mL/min/1.73 m2 in male and female patients, respectively, as estimated by simple linear regression. In ERT-experienced patients, mean annualized rates of change from baseline in eGFRCKD-EPI were − 1.6 mL/min/1.73 m2 overall and − 2.6 mL/min/1.73 m2 and − 0.8 mL/min/1.73 m2 in male and female patients, respectively. Mean annualized rate of change in eGFRCKD-EPI in ERT-naive patients with the classic phenotype (defined by white blood cell alpha galactosidase A [α-Gal A] activity of <3% of normal and multiorgan system involvement) was − 1.7 mL/min/1.73 m2 . When calculated using the random coefficient model, which adjusted for sex, age, and baseline renal function, the annualized eGFRCKD-EPI change was minimal (mean: − 0.1 and 0.1 mL/min/1.73 m2 in ERT-naive and ERT-experienced patients, respectively). In conclusion, patients with Fabry disease and amenable GLA variants receiving long-term migalastat treatment (≤8.6 years) maintained renal function irrespective of treatment status, sex, or phenotype.en
dc.format.mimetypeapplication/pdfpt_BR
dc.language.isoengpt_BR
dc.relation.ispartofMolecular genetics and metabolism reports. New York. Vol. 28 (2021), 100786, 12 p.pt_BR
dc.rightsOpen Accessen
dc.subjectDoença de Fabrypt_BR
dc.subjectClassic phenotypeen
dc.subjectFenótipopt_BR
dc.subjectEfficacyen
dc.subjectFabry diseaseen
dc.subjectEficáciapt_BR
dc.subjectChaperoneen
dc.subjectTestes de função renalpt_BR
dc.subjectMigalastaten
dc.subjectResultado do tratamentopt_BR
dc.subjectRenal functionen
dc.titleLong-term follow-up of renal function in patients treated with migalastat for Fabry diseasept_BR
dc.typeArtigo de periódicopt_BR
dc.identifier.nrb001135924pt_BR
dc.type.originEstrangeiropt_BR


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