Long-term safety and efficacy of agalsidase beta in Japanese patients with Fabry disease: aggregate data from two post-authorization safety studies

References

• Gal A, Schafer E, Rohard I. Chapter 33: the genetic basis of Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G, editors Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Accessed 2020 Jul 17. Available from: https://www.ncbi.nlm.nih.gov/books/NBK11574/
   Google Scholar
• Waldek S, Patel M, Banikazemi M, et al. Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. Gen Med. 2009;11:790–796.
   Google Scholar
• Mehta A, Widmer U. Chapter 19: natural history of Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G, editors Fabry Disease: perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Accessed 2020 Jul 17. Available from: https://www.ncbi.nlm.nih.gov/books/NBK11572/
   Google Scholar
• Oder D, Üçeyler N, Liu D, et al. Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y. BMJ Open. 2016;6(4):e010422. .
   PubMed Web of Science ®Google Scholar
• Arends M, Wanner C, Hughes D, et al. Characterization of classical and nonclassical Fabry disease: a multicenter study. J Am Soc Nephrol. 2017(28);1631–1641.
   Web of Science ®Google Scholar
• Tsukimura T, Nakano S, Togawa T, et al. Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease. Mol Gen Metab Rep. 2014;1:288–298.
   PubMedGoogle Scholar
• Rozenfeld PA. Fabry disease: treatment and diagnosis. IUBMB Life. 2009;61(11):1043–1050.
   PubMed Web of Science ®Google Scholar
• Laney DA, Peck DS, Atherton AM, et al. Fabry disease in infancy and early childhood: a systematic literature review. Genet Med. 2015;17(5):323–330. .
   PubMed Web of Science ®Google Scholar
• Ortiz A, Germain DP, Desnick RJ, et al. Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab. 2018;123:416–427.
   PubMed Web of Science ®Google Scholar
• Hopkin RJ, Bissler J, Banikazemi M, et al. Characterization of Fabry disease in 352 pediatric patients in the Fabry registry. Pediatr Res. 2008;64:550–555.
   PubMed Web of Science ®Google Scholar
• Salviati A, Burlina AP, Borsini W. Nervous system and Fabry disease, from symptoms to diagnosis: damage evaluation and follow-up in adult patients, enzyme replacement, and support therapy. Neurol Sci. 2010;31:299–306.
   PubMed Web of Science ®Google Scholar
• MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet. 2001;38:750–760.
   PubMed Web of Science ®Google Scholar
• Sims K, Politei J, Banikazemi M, et al. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry. Stroke. 2009;40:788–794.
   PubMed Web of Science ®Google Scholar
• Germain DP, Brand E, Cecchi F, et al. The phenotypic characteristics of the p.N215S Fabry disease genotype in male and female patients: a multi-center Fabry Registry study. Mol Genet Metab. 2017;120:S51–S52.
   Web of Science ®Google Scholar
• Macauley SL. Combination therapies for lysosomal storage diseases: a complex answer to a simple problem. Pediatr Endocrinol Rev. 2016;13(Suppl 1):639–648.
   PubMedGoogle Scholar
• Sestito S, Ceravolo F, Falvo F, et al. Pathobiological insights into the newly targeted therapies of lysosomal storage disorders. J Pediatr Biochem. 2016;6:1.
   Web of Science ®Google Scholar
• European Medicines Agency. EPAR summary for the public: fabrazyme. 2013. Available from: https://www.ema.europa.eu/en/documents/overview/fabrazyme-epar-summary-public_en.pdf. Cited 2020 Jun 15.
   Google Scholar
• Fabrazyme [prescribing information]. Genzyme Corporation, 2010. Available from: https://www.accessdata.fda.gov/drugsatfda_docs/label/2010/103979s5135lbl.pdf. Cited 2020 Jul 16.
   Google Scholar
• Uyama E. Fabry disease in light of recent review. Brain Nerve. 2008;60:1235–1244.
   PubMedGoogle Scholar
• European Medicines Agency. EPAR summary for the public: replagal. 2015. Available from: https://www.ema.europa.eu/en/documents/overview/replagal-epar-summary-public_en.pdf. Cited 2020 Nov 6
   Google Scholar
• Pharmaceutical and Medical Devices Agency, Japan. List of approved products (FY 2006). Available from: https://www.pmda.go.jp/files/000153730.pdf. Cited 2020 Nov 6.
   Google Scholar
• Sakuraba H, Murata-Ohsawa M, Kawashima I, et al. Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice. J Hum Genet. 2006;51:180–188.
   PubMed Web of Science ®Google Scholar
• Felis A, Whitlow M, Kraus A, et al. Current and investigational therapeutics for Fabry Disease. Kidney Int Rep. 2020;5:407–413.
   PubMed Web of Science ®Google Scholar
• Eng CM, Guffon N, Wilcox WR, et al. Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry’s disease. N Engl J Med. 2001;345:9–16.
   PubMed Web of Science ®Google Scholar
• Germain DP, Waldek S, Banikazemi M, et al. Sustained, long-term renal stabilization after 54 months of agalsidase β therapy in patients with Fabry disease. J Am Soc Nephrol. 2007;18:1547–1557.
   PubMed Web of Science ®Google Scholar
• Eto Y, Ohashi T, Utsunomiya Y, et al. Enzyme replacement therapy in Japanese Fabry disease patients: the results of a Phase 2 bridging study. J Inherit Metab Dis. 2005;28:575–583.
   PubMed Web of Science ®Google Scholar
• Banikazemi M, Bultas J, Waldek S, et al. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med. 2007;146:77–86.
   PubMed Web of Science ®Google Scholar
• Pisani A, Bruzzese D, Sabbatini M, et al. Switch to agalsidase alfa after shortage of agalsidase beta in Fabry disease: a systematic review and meta-analysis of the literature. Genet Med. 2017;19:275–282.
   PubMed Web of Science ®Google Scholar
• Wraith JE, Tylki-Szymanska A, Guffon N, et al. Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease. J Pediatr. 2008;152:563–570.e561.
   PubMed Web of Science ®Google Scholar
• Wilcox WR, Banikazemi M, Guffon N, et al. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Gen. 2004;75:65–74.
   PubMed Web of Science ®Google Scholar
• Kishnani PS, Dickson PI, Muldowney L, et al. Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction. Mol Genet Metab. 2016;117:66–83.
   PubMed Web of Science ®Google Scholar
• Mehta A, Beck. M, Linhart A, et al. Chapter 42: monitoring and follow-up of patients. In: Fabry Disease: perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Accessed 2020 Nov 18. Available from: https://www.ncbi.nlm.nih.gov/books/NBK11569/
   Google Scholar
• Byrne BJ, Geberhiwot T, Barshop BA, et al. A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease. Orphanet J Rare Dis. 2017;12:144.
   PubMed Web of Science ®Google Scholar
• Lenders M, Brand E. Effects of enzyme replacement therapy and antidrug antibodies in patients with Fabry disease. J Am Soc Nephrol. 2018;29:2265–2278.
   PubMed Web of Science ®Google Scholar
• Sasa H, Nagao M. Safety and effectiveness of enzyme replacement therapy with agalsidase alfa in patients with Fabry disease: post-marketing surveillance in Japan. Mol Genet Metab. 2019;126:448–459.
   PubMed Web of Science ®Google Scholar
• Duro G, Zizzo C, Cammarata G, et al. Mutations in the GLA gene and lysoGb3: is it really Anderson-Fabry disease? Int J Mol Sci. 2018;19:3726.
   Web of Science ®Google Scholar
• Sakuraba H, Tsukimura T, Togawa T, et al. Fabry disease in a Japanese population-molecular and biochemical characteristics. Mol Gen Metab Rep. 2018;17:73–79.
   PubMed Web of Science ®Google Scholar
• MacDermot KD, Holmes A. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet. 2001;38:769–775.
   PubMed Web of Science ®Google Scholar
• Lin HY, Chong KW, Hsu JH, et al. High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population. Circ Cardiovasc Genet. 2009;2:450–456.
   PubMed Web of Science ®Google Scholar
• Deegan PB, Bähner. F, Barba. M. Chapter 30: fabry disease in females: clinical characteristics and effects of enzyme replacement therapy. In: Mehta A, Beck M, Sunder-Plassmann G, editors Fabry Disease: perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Accessed 2020 Jul 17. Available from: https://www.ncbi.nlm.nih.gov/books/NBK11591/
   Google Scholar
• Wilcox WR, Oliveira JP, Hopkin RJ, et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab. 2008;93:112–128.
   PubMed Web of Science ®Google Scholar
• Germain DP, Charrow J, Desnick RJ, et al. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. J Med Genet. 2015;52:353–358.
   PubMed Web of Science ®Google Scholar
• Weidemann F, Niemann M, Störk S, et al. Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications. J Intern Med. 2013;274:331–341.
   PubMed Web of Science ®Google Scholar
• Schellekens H, Casadevall N. Immunogenicity of recombinant human proteins: causes and consequences. J Neurol. 2004;251(Suppl 2):i4–9.
   Google Scholar
• Bénichou B, Goyal S, Sung C, et al. A retrospective analysis of the potential impact of IgG antibodies to agalsidase beta on efficacy during enzyme replacement therapy for Fabry disease. Mol Genet Metab. 2009;96:4–12.
   PubMed Web of Science ®Google Scholar
• Rombach SM, Aerts JM, Poorthuis BJ, et al. Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome. PLoS One. 2012;7:e47805.
   PubMed Web of Science ®Google Scholar
• Lenders M, Stypmann J, Duning T, et al. Serum-mediated inhibition of enzyme replacement therapy in Fabry disease. J Am Soc Nephrol. 2016;27:256–264.
   PubMed Web of Science ®Google Scholar
• Kanai T, Ito T, Odaka J, et al. Surges in proteinuria are associated with plasma GL-3 elevations in a young patient with classic Fabry disease. Eur J Pediatr. 2016;175:427–431.
   PubMed Web of Science ®Google Scholar
• Goker-Alpan O, Gambello MJ, Maegawa GHB, et al. Reduction of plasma globotriaosylsphingosine levels after switching from agalsidase alfa to agalsidase beta as enzyme replacement therapy for Fabry disease. JIMD Rep. 2016;25:95–106.
   PubMedGoogle Scholar
• Liao H-C, Huang Y-H, Chen Y-J, et al. Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation. Clin Chim Acta. 2013;426:114–120.
   PubMed Web of Science ®Google Scholar
• Young E, Mills K, Morris P, et al. Is globotriaosylceramide a useful biomarker in Fabry disease? Acta Paediatr Suppl. 2005;94:51–54.
   PubMedGoogle Scholar
• Winchester B, Young E. Chapter 18: biochemical and genetic diagnosis of Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G, editors Fabry Disease: perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Accessed 2020 Jul 17. Available from: https://www.ncbi.nlm.nih.gov/books/NBK11601/
   Google Scholar
• Maruyama H, Miyata K, Mikame M, et al. Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis. Genet Med. 2019;21:44–52.
   PubMed Web of Science ®Google Scholar
• Eto Y, Komuro I, Tsuji S, et al. Fabry Disease: Diagnosis and Management Handbook for Japanese, Revised 3rd Edition. In: Editorial Committee for Fabry's disease diagnosis and treatment handbook, editors. Tokyo: En Medix; 2018.
   Google Scholar