Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study

Molecular Genetics and Metabolism - Tập 131 - Trang 219-228 - 2020
Ulla Feldt-Rasmussen1, Derralynn Hughes2, Gere Sunder-Plassmann3, Suma Shankar4, Khan Nedd5, Iacopo Olivotto6, Damara Ortiz7, Toya Ohashi8, Takashi Hamazaki9, Nina Skuban10, Julie Yu10, Jay A. Barth10, Kathleen Nicholls11
1Department of Medical Endocrinology and Metabolism, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
2Department of Haematology, Royal Free London NHS Foundation Trust and University College London, London, UK
3Division of Nephrology and Dialysis, Department of Medicine III, Medical University of Vienna, Vienna, Austria
4Department of Pediatrics, University of California-Davis, Davis, CA, USA
5Infusion Associates, Grand Rapids, MI, USA
6Cardiomyopathy Unit, Careggi University Hospital, Florence, Italy
7Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA
8Jikei University Hospital, Tokyo, Japan
9Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan
10Amicus Therapeutics, Inc, Cranbury, NJ, USA.
11Department of Nephrology, Royal Melbourne Hospital, University of Melbourne, Parkville, VIC, Australia

Tài liệu tham khảo

Germain, 2010, Fabry disease, Orphanet J. Rare Dis., 5, 30, 10.1186/1750-1172-5-30 Desnick, 2016, a-Galactosidase A deficiency: Fabry disease Rozenfeld, 2017, Contribution of inflammatory pathways to Fabry disease pathogenesis, Mol. Genet. Metab., 122, 19, 10.1016/j.ymgme.2017.09.004 Amicus Therapeutics, Inc Meikle, 1999, Prevalence of lysosomal storage disorders, JAMA, 281, 249, 10.1001/jama.281.3.249 Schiffmann, 2016, Fabry disease: a disorder of childhood onset, Pediatr. Neurol., 64, 10, 10.1016/j.pediatrneurol.2016.07.001 Alegra, 2012, Enzyme replacement therapy for Fabry disease: a systematic review and meta-analysis, Genet. Mol. Biol., 35, 947, 10.1590/S1415-47572012000600009 Sirrs, 2014, Outcomes of patients treated through the Canadian Fabry disease initiative, Mol. Genet. Metab., 111, 499, 10.1016/j.ymgme.2014.01.014 Lenders, 2016, Serum-mediated inhibition of enzyme replacement therapy in Fabry disease, J. Am. Soc. Nephrol., 27, 256, 10.1681/ASN.2014121226 Hendriksz, 2018, Risks of long-term port use in enzyme replacement therapy for lysosomal storage disorders, Mol. Genet. Metab. Rep., 15, 71, 10.1016/j.ymgmr.2018.02.007 De Portu, 2008, Economic impacts of the Fabry-Anderson disease treatment, Value Health, 11, A638, 10.1016/S1098-3015(10)67081-7 Santamaria, 2019, Burden of disease in patients with Fabry disease-economic burden of health care resources consumption, Nephrol. Dial. Transplant., 34 Yam, 2005, A synthetic chaperone corrects the trafficking defect and disease phenotype in a protein misfolding disorder, FASEB J., 19, 12, 10.1096/fj.04-2375com Ishii, 2007, Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin, Biochem. J., 406, 285, 10.1042/BJ20070479 2020 Johnson, 2013, Pharmacokinetics and safety of migalastat HCl and effects on agalsidase activity in healthy volunteers, Clin. Pharmacol. Drug Devel., 2, 120, 10.1002/cpdd.1 Germain, 2016, Treatment of Fabry's disease with the pharmacologic chaperone migalastat, N. Engl. J. Med., 375, 545, 10.1056/NEJMoa1510198 Hughes, 2017, Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study, J. Med. Genet., 54, 288, 10.1136/jmedgenet-2016-104178 Sunder-Plassmann, 2018, Migalastat for the treatment of Fabry disease, Expert Opin. Orphan Drugs., 6, 301, 10.1080/21678707.2018.1469978 Benjamin, 2017, The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat, Genet. Med., 19, 430, 10.1038/gim.2016.122 Echevarria, 2016, X-chromosome inactivation in female patients with Fabry disease, Clin. Genet., 89, 44, 10.1111/cge.12613 Wanner, 2010, Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry, Clin. J. A. Soc. Nephrol., 5, 2220, 10.2215/CJN.04340510 Schiffmann, 2009, Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy, Nephrol. Dial. Transplant., 24, 2102, 10.1093/ndt/gfp031 Anderson, 2014, Long-term effectiveness of enzyme replacement therapy in Fabry disease: results from the NCS-LSD cohort study, J. Inherit. Metab. Dis., 37, 969, 10.1007/s10545-014-9717-4 Weidemann, 2013, Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications, J. Intern. Med., 274, 331, 10.1111/joim.12077 Goker-Alpan, 2015, Effect and tolerability of agalsidase alfa in patients with Fabry disease who were treatment naive or formerly treated with agalsidase beta or agalsidase alfa, JIMD Rep., 23, 7, 10.1007/8904_2015_422 Lenders, 2017, Renal function predicts long-term outcome on enzyme replacement therapy in patients with Fabry disease, Nephrol. Dial. Transplant., 32, 2090 Madsen, 2018, Age-related renal function decline in Fabry disease patients on enzyme replacement therapy: a longitudinal cohort study, Nephrol. Dial. Transplant., 34, 1525, 10.1093/ndt/gfy357 Mehta, 2009, Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey, J. Med. Genet., 46, 548, 10.1136/jmg.2008.065904 Patel, 2011, Cardiovascular events in patients with fabry disease natural history data from the fabry registry, J. Am. Coll. Cardiol., 57, 1093, 10.1016/j.jacc.2010.11.018 Katholi, 2011, Left ventricular hypertrophy: major risk factor in patients with hypertension: update and practical clinical applications, Int. J. Hypertens., 2011, 10.4061/2011/495349 Pierdomenico, 2010, Risk reduction after regression of echocardiographic left ventricular hypertrophy in hypertension: a meta-analysis, Am. J. Hypertens., 23, 876, 10.1038/ajh.2010.80 Beck, 2015, Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: a Fabry Outcome Survey analysis, Mol. Genet. Metab. Rep., 3, 21, 10.1016/j.ymgmr.2015.02.002 Hughes, 2008, Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa, Heart, 94, 153, 10.1136/hrt.2006.104026 Germain, 2013, Analysis of left ventricular mass in untreated men and in men treated with agalsidase-beta: data from the Fabry Registry, Genet. Med., 15, 958, 10.1038/gim.2013.53 Kampmann, 2015, Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years' treatment, Orphanet J. Rare Dis., 10, 10.1186/s13023-015-0338-2 Madsen, 2017, Echocardiographic and clinical findings in patients with Fabry disease during long-term enzyme replacement therapy: a nationwide Danish cohort study, Scand. Cardiovasc. J., 51, 207, 10.1080/14017431.2017.1332383 Muntze, 2019, Oral chaperone therapy migalastat for treating Fabry disease: enzymatic response and serum biomarker changes after 1 year, Clin. Pharmacol. Ther., 105, 1224, 10.1002/cpt.1321 Lenders, 2020, Treatment of Fabry’s disease with migalastat: outcome from a prospective observational multicenter study (FAMOUS), Clin. Pharmacol. Ther., 108, 326, 10.1002/cpt.1832 Banikazemi, 2007, Agalsidase-beta therapy for advanced Fabry disease: a randomized trial, Ann. Intern. Med., 146, 77, 10.7326/0003-4819-146-2-200701160-00148 Arends, 2018, Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study, J. Med. Genet., 55, 351, 10.1136/jmedgenet-2017-104863 Germain, 2015, Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease, J. Med. Genet., 52, 353, 10.1136/jmedgenet-2014-102797 Schiffmann, 2006, Neurological effects of enzyme replacement therapy in Fabry disease Arends, 2017, Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: analysis of prognostic factors, PLoS One, 12, 10.1371/journal.pone.0182379 Schiffmann, 2000, Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease, Proc. Natl. Acad. Sci. U. S. A., 97, 365, 10.1073/pnas.97.1.365 2016 Boutin, 2014, Multiplex tandem mass spectrometry analysis of novel plasma lyso-Gb(3)-related analogues in Fabry disease, Anal. Chem., 86, 3476, 10.1021/ac404000d Mehta, 2004, Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey, Eur. J. Clin. Investig., 34, 236, 10.1111/j.1365-2362.2004.01309.x Beck, 2006, Demographics of FOS – the Fabry Outcome Survey Eng, 2007, Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry, J. Inherit. Metab. Dis., 30, 184, 10.1007/s10545-007-0521-2 Schiffmann, 2001, Enzyme replacement therapy in Fabry disease: a randomized controlled trial, JAMA, 285, 2743, 10.1001/jama.285.21.2743