References
- Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30.
- Schiffmann R, Hughes DA, Linthorst GE, et al. Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: improving Global Outcomes” (KDIGO) Controversies Conference. Kidney Int. 2017;91(2):284–293.
- Meikle PJ, Hopwood JJ, Clague AE, et al. Prevalence of lysosomal storage disorders. JAMA. 1999;281(3):249–254.
- Spada M, Pagliardini S, Yasuda M, et al. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet. 2006;79(1):31–40.
- Hwu WL, Chien YH, Lee NC, et al. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). Hum Mutat. 2009;30(10):1397–1405.
- Mechtler TP, Stary S, Metz TF, et al. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet. 2012;379(9813):335–341.
- Inoue T, Hattori K, Ihara K, et al. Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study. J Hum Genet. 2013;58(8):548–552.
- Scott CR, Elliott S, Buroker N, et al. Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry. J Pediatrics. 2013;163(2):498–503.
- Doheny D, Srinivasan R, Pagant S, et al. Fabry disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017. J Med Genet. 2018;55(4):261–268.
- Laney DA, Bennett RL, Clarke V, et al. Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2013;22(5):555–564.
- Biegstraaten M, Arngrimsson R, Barbey F, et al. Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document. Orphanet J Rare Dis. 2015;10:36.
- Eng CM, Germain DP, Banikazemi M, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med. 2006;8(9):539–548.
- Alegra T, Vairo F, de Souza MV, et al. Enzyme replacement therapy for Fabry disease: a systematic review and meta-analysis. Genet Mol Biol. 2012;35(4 suppl):947–954.
- Wilcox WR, Linthorst GE, Germain DP, et al. Anti-alpha-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry. Mol Genet Metab. 2012;105(3):443–449.
- Linthorst GE, Hollak CE, Donker-Koopman WE, et al. Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta. Kidney Int. 2004;66(4):1589–1595.
- Lenders M, Stypmann J, Duning T, et al. Serum-mediated inhibition of enzyme replacement therapy in Fabry disease. J Am Soc Nephrol. 2016;27(1):256–264.
- Mehta A, Beck M, Eyskens F, et al. Fabry disease: a review of current management strategies. QJM. 2010;103(9):641–659.
- Guerard N, Oder D, Nordbeck P, et al. Lucerastat, an iminosugar for substrate reduction therapy: tolerability, pharmacodynamics, and pharmacokinetics in patients with Fabry disease on enzyme replacement. Clin Pharmacol Ther. 2018;103(4):703–711.
- Benjamin ER, Flanagan JJ, Schilling A, et al. The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines. J Inherit Metab Dis. 2009;32(3):424–440.
- Khanna R, Soska R, Lun Y, et al. The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease. Mol Therapy: J Am Soc Gene Ther. 2010;18(1):23–33.
- Gaggl M, Sunder-Plassmann G. Fabry disease: a pharmacological chaperone on the horizon. Nat Reviews Nephrol. 2016;12(11):653–654.
- Germain DP, Giugliani R, Hughes DA, et al. Safety and pharmacodynamic effects of a pharmacological chaperone on alpha-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies. Orphanet J Rare Dis. 2012;7:91.
- Germain DP, Fan JQ. Pharmacological chaperone therapy by active-site-specific chaperones in Fabry disease: in vitro and preclinical studies. Int J Clin Pharmacol Ther. 2009;47(Suppl 1): S111–7.
- Fan JQ, Ishii S, Asano N, et al. Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor. Nat Med. 1999;5(1):112–115.
- Asano N, Ishii S, Kizu H, et al. In vitro inhibition and intracellular enhancement of lysosomal alpha-galactosidase A activity in Fabry lymphoblasts by 1-deoxygalactonojirimycin and its derivatives. Eur J Biochemistry. 2000;267(13):4179–4186.
- Yam GH, Zuber C, Roth J. A synthetic chaperone corrects the trafficking defect and disease phenotype in a protein misfolding disorder. Faseb J. 2005;19(1):12–18.
- Ishii S, Chang HH, Kawasaki K, et al. 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. 2007;406(2):285–295.
- Johnson FK, Mudd PN Jr., Bragat A, et al. Pharmacokinetics and safety of migalastat HCl and effects on agalsidase activity in healthy volunteers. Clin Pharmacol Drug Dev. 2013;2(2):120–132.
- Warnock DG, Bichet DG, Holida M, et al. Oral migalastat HCl leads to greater systemic exposure and tissue levels of active alpha-galactosidase A in Fabry patients when co-administered with infused agalsidase. PLoS One. 2015;10(8):e0134341.
- Benjamin ER, Della Valle MC, Wu X, et al. The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat. Genet Med. 2017;19(4):430–438.
- Amicus Therapeutics UK Ltd. Galafold 123 mg hard capsules. Buckinghamshire, UK: Amicus Therapeutics UK Ltd; 2017.
- Ino H, Takahashi N, Terao T, et al. Pharmacokinetics, safety, and tolerability following single-dose migalastat hydrochloride (GR181413A/AT1001) in healthy male Japanese subjects. J Drug Assess. 2013;2(1):87–93.
- Johnson FK, Mudd PN Jr., Janmohamed SG. Relative bioavailability and the effect of meal type and timing on the pharmacokinetics of migalastat in healthy volunteers. Clin Pharmacol Drug Dev. 2015;4(3):193–202.
- Mudd PN, Johnson FK, Churchill A. A phase 1 study to investigate the absorption, metabolism and excretion of [14c] migalastat hydrochloride following a single oral administration in healthy volunteers. Clin Pharmacol Drug Devel; 2013;2(suppl 1):18–19.
- Johnson FK, Mudd PN Jr., DiMino T, et al. An open-label study to determine the pharmacokinetics and safety of migalastat HCl in subjects with impaired renal function and healthy subjects with normal renal function. Clin Pharmacol Drug Dev. 2015;4(4):256–261.
- Giugliani R, Waldek S, Germain DP, et al. A phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effects. Mol Genet Metabolism. 2013;109(1):86–92.
- Germain DP, Hughes DA, Nicholls K, et al. Treatment of Fabry’s Disease with the pharmacologic chaperone migalastat. N Engl J Med. 2016;375(6):545–555.
- Mauer M, Sokolovskiy A, Barth JA, et al. Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment. J Med Genet. 2017;54(11):781–786.
- Hughes DA, Nicholls K, Shankar SP, et al. 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. 2017;54(4):288–296.