Effects of Current Therapies on Disease Progression in Fabry Disease: A Narrative Review for Better Patient Management in Clinical Practice

National Institute for Health and Care Excellence. Migalastat for treating Fabry disease: highly specialised technologies guidance HST4. 2017. http://www.nice.org.uk/guidance/hst4. Accessed 26 Oct 2022.

Niemann M, Rolfs A, Störk S, et al. Gene mutations versus clinically relevant phenotypes: lyso-Gb3 defines Fabry disease. Circ Cardiovasc Genet. 2014;7(1):8–16.

Article  CAS  PubMed  Google Scholar 

Tuttolomondo A, Simonetta I, Riolo R, et al. Pathogenesis and molecular mechanisms of Anderson-Fabry disease and possible new molecular addressed therapeutic strategies. Int J Mol Sci. 2021;22(18):10088.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Germain DP, Nicholls K, Giugliani R, et al. Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study. Genet Med. 2019;21(9):1987–97.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Arends M, Korver S, Hughes DA, Mehta A, Hollak CEM, Biegstraaten M. Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study. J Inherit Metab Dis. 2018;41(1):141–9.

Article  PubMed  Google Scholar 

Marian AJ. Challenges in the diagnosis of Anderson-Fabry disease: a deceptively simple and yet complicated genetic disease. J Am Coll Cardiol. 2016;68(10):1051–3.

Article  PubMed  Google Scholar 

Di Risi T, Vinciguerra R, Cuomo M, et al. DNA methylation impact on Fabry disease. Clin Epigenet. 2021;13(1):1–9.

Google Scholar 

Germain DP, Levade T, Hachulla E, et al. Challenging the traditional approach for interpreting genetic variants: lessons from Fabry disease. Clin Genet. 2022;101(4):390–402.

Article  CAS  PubMed  Google Scholar 

Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–23.

Article  PubMed  PubMed Central  Google Scholar 

Pieroni M, Moon JC, Arbustini E, et al. Cardiac involvement in Fabry disease: JACC review topic of the week. J Am Coll Cardiol. 2021;77(7):922–36.

Article  CAS  PubMed  Google Scholar 

Rozenfeld P, Feriozzi S. Contribution of inflammatory pathways to Fabry disease pathogenesis. Mol Genet Metab. 2017;122(3):19–27.

Article  CAS  PubMed  Google Scholar 

Ivanova M. Altered sphingolipids metabolism damaged mitochondrial functions: lessons learned from Gaucher and Fabry diseases. J Clin Med. 2020;9(4):1116.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Electronic Medicines Compendium. Summary of product characteristics: Galafold 123 mg 2016. https://www.medicines.org.uk/emc/product/10934. Accessed 26 Oct 2022.

Electronic Medicines Compendium. Summary of product characteristics: Replagal 1mg/ml concentrate for solution for infusion. 2022. https://www.medicines.org.uk/emc/product/9186/smpc#gref. Accessed 26 Oct 2022.

Electronic Medicines Compendium. Summary of product characteristics: Fabrazyme 35 mg powder for concentrate for solution for infusion. 2021. https://www.medicines.org.uk/emc/product/8045/smpc#gref. Accessed 26 Oct 2022.

European Medicines Agency. Elfabrio: EPAR summary for the public. 2023. https://www.ema.europa.eu/en/documents/product-information/elfabrio-epar-product-information_en.pdf. Accessed 2 Apr 2024.

European Medicines Agency. Fabrazyme: EPAR summary for the public. 2013. https://www.ema.europa.eu/en/medicines/human/EPAR/fabrazyme. Accessed 26 Oct 2022.

European Medicines Agency. Replagal: EPAR summary for the public. 2015. https://www.ema.europa.eu/en/documents/overview/replagal-epar-summary-public_en.pdf. Accessed 26 Oct 2022.

Takeda Canada Inc. Replagal product monograph. 2021. http://www.takeda.com/en-ca/replagalpm. Accessed 26 Oct 2022.

US Food and Drug Administration. Fabrazyme® (agalsidase beta) for injection, for intravenous use: prescribing information. 2003. https://www.accessdata.fda.gov/drugsatfda_docs/label/2021/103979s5309lbl.pdf. Accessed 26 Oct 2022.

US Food and Drug Administration. Elfabrio (pegunigalsidase alfa-iwxj) injection, for intravenous use. 2023. https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/761161s000lbl.pdf. Accessed 2 Apr 2024.

US Food and Drug Administration. GalafoldTM (migalastat) capsules, for oral use: prescribing information. 2018. https://www.accessdata.fda.gov/drugsatfda_docs/label/2018/208623lbl.pdf. Accessed 26 Oct 2022.

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):545–55.

Article  CAS  PubMed  Google Scholar 

Lenders M, Stappers F, Brand E. In vitro and in vivo amenability to migalastat in Fabry disease. Mol Ther Methods Clin Dev. 2020;19:24–34.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Thurberg BL, Rennke H, Colvin RB, et al. Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int. 2002;62(6):1933–46.

Article  CAS  PubMed  Google Scholar 

Pisani A, Visciano B, Imbriaco M, et al. The kidney in Fabry’s disease. Clin Genet. 2014;86(4):301–9.

Article  CAS  PubMed  Google Scholar 

Riccio E, Sabbatini M, Bruzzese D, et al. Glomerular hyperfiltration: an early marker of nephropathy in Fabry disease. Nephron. 2019;141(1):10–7.

Article  CAS  PubMed  Google Scholar 

Weidemann F, Krämer J, Duning T, et al. Patients with Fabry disease after enzyme replacement therapy dose reduction versus treatment switch. J Am Soc Nephrol. 2014;25(4):837–49.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pisani A, Petruzzelli Annicchiarico L, Pellegrino A, et al. Parapelvic cysts, a distinguishing feature of renal Fabry disease. Nephrol Dial Transplant. 2018;33(2):318–23.

Article  CAS  PubMed  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(5):1547–57.

Article  CAS  PubMed  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(4):563–70. e1.

Wanner C, Feldt-Rasmussen U, Jovanovic A, et al. Cardiomyopathy and kidney function in agalsidase beta-treated female Fabry patients: a pre-treatment vs. post-treatment analysis. ESC Heart Fail. 2020;7(3):825–34.

Article  PubMed  PubMed Central  Google Scholar 

Wilcox WR, Banikazemi M, Guffon N, et al. Long-term safety and efficacy of enzyme replacement therapyfor fabry disease. Am J Hum Genet. 2004;75(1):65–74.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Imbriaco M, Pisani A, Spinelli L, et al. Effects of enzyme-replacement therapy in patients with Anderson-Fabry disease: a prospective long-term cardiac magnetic resonance imaging study. Heart. 2009;95(13):1103–7.

Article  CAS  PubMed  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(5):353–8.

Article  CAS  PubMed  Google Scholar 

Borgwardt L, Feldt-Rasmussen U, Rasmussen AK, Ballegaard M, Meldgaard LA. Fabry disease in children: agalsidase-beta enzyme replacement therapy. Clin Genet. 2013;83(5):432–8.

Article  CAS  PubMed  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(2):77–86.

Article  PubMed  Google Scholar 

Breunig F, Weidemann F, Strotmann J, Knoll A, Wanner C. Clinical benefit of enzyme replacement therapy in Fabry disease. Kidney Int. 2006;69(7):1216–21.

Article  CAS  PubMed  Google Scholar 

Whybra C, Miebach E, Mengel E, et al. A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease. Genet Med. 2009;11(6):441–9.

Article  CAS  PubMed  Google Scholar 

Thofehrn S, Netto C, Cecchin C, et al. Kidney function and 24-hour proteinuria in patients with Fabry disease during 36 months of agalsidase alfa enzyme replacement therapy: a Brazilian experience. Ren Fail. 2009;31(9):773–8.

留言 (0)

沒有登入
gif