Additional considerations to the Colombian expert consensus on evidence-based recommendations for the diagnosis, treatment and follow-up of Fabry disease with renal involvement
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Keywords

Fabry Disease
Kidney Diseases
Enzyme Replacement Therapy
United States Food and Drug

How to Cite

1.
Jaurretche S. Additional considerations to the Colombian expert consensus on evidence-based recommendations for the diagnosis, treatment and follow-up of Fabry disease with renal involvement. Rev. Colomb. Nefrol. [Internet]. 2023 Mar. 10 [cited 2024 Apr. 18];10(2). Available from: https://revistanefrologia.org/index.php/rcn/article/view/671

Abstract

Regarding the "Colombian expert consensus on evidence-based recommendations for the diagnosis, treatment and follow-up of Fabry disease with renal involvement" published in the Rev. Colomb. Nefrol. Vol. 9, No. 1 (2022): the work is an excellent review of the most important aspects of Fabry disease nephropathy, achieving to be, in my opinion, an adequate practical guide for its management.


The consensus addresses a highly controversial issue among experts in Fabry disease, and also issues therapeutic recommendations even though, to date, there is no meta-analysis that directly compares enzyme replacement therapy versus pharmacological chaperones.

https://doi.org/10.22265/acnef.10.2.671
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References

Barros LR, Jiménez SJ, Roncallo A, López F, Conde JC, Martínez T, et al. Consenso colombiano de expertos sobre recomendaciones basadas en evidencias para el diagnóstico, el tratamiento y el seguimiento de la enfermedad de Fabry con compromiso renal. Rev Colomb Nefrol. 2022 9(1), e591. https://doi.org/10.22265/acnef.9.1.591

Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, et al. Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat. N Engl J Med. 2016;375(6):545-55. https://doi.org/10.1056/NEJMoa1510198

Müntze J, Gensler D, Maniuc O, Liu D, Cairns T, Oder D, et al. Oral Chaperone Therapy Migalastat for Treating Fabry Disease: Enzymatic Response and Serum Biomarker Changes After 1 Year. Clin Pharmacol Ther. 2019 my.;105(5):1224-33. https://doi.org/10.1002/cpt.1321

Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, 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 abr.;54(4):288-96. https://doi.org/10.1136%2Fjmedgenet-2016-104178corr1

Feldt-Rasmussen U, Hughes D, Sunder-Plassmann G, Shankar S, Nedd K, Olivotto I, et al. (2020). 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. Mol. Genet. Metab., 131(1-2), 219-228. https://doi.org/10.1016/j.ymgme.2020.07.007

Lenders M, Nordbeck P, Kurschat C, Eveslage M, Karabul N, Kaufeld J, et al. (2022). Treatment of Fabry Disease management with migalastat—outcome from a prospective 24 months observational multicenter study (FAMOUS). Eur. Heart J. Cardiovasc. Pharmacother 8(3), 272-281. https://doi.org/10.1093/ehjcvp/pvab025

Riccio E, Zanfardino M, Ferreri L, Santoro C, Cocozza S, Capuano I, et al. Switch from enzyme replacement therapy to oral chaperone migalastat for treating fabry disease: reallife data. Eur J Hum Genet. 2020 jul.;1662-8. https://doi.org/10.1038/s41431-020-0677-x

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