For more than a decade, enzyme replacement therapy represented the only treatment option for patients with Fabry disease. New findings suggest that a pharmacological chaperone can induce renal substrate clearance, decrease left ventricular mass and improve gastrointestinal symptoms in patients with specific mutations in GLA.
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References
Clarke, J. T. Narrative review: Fabry disease. Ann. Intern. Med. 146, 425–433 (2007).
Mehta, A. et al. Enzyme replacement therapy in Fabry disease: comparison of agalsidase alfa and agalsidase beta. Mol. Genet. Metab. 95, 114–115 (2008).
Mehta, A. B. Fabry disease: is there a role for enzyme replacement therapy? J. Intern. Med. 274, 329–330 (2013).
Markham, A. Migalastat: first global approval. Drugs 76, 1147–1152 (2016).
Germain, D. P. et al. Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies. Orphanet J. Rare Dis. 7, 91 (2012).
Germain, D. P. et al. Treatment of Fabry's disease with the pharmacologic chaperone migalastat. N. Engl. J. Med. 375, 545–555 (2016).
Hughes, D. et al. Long-term efficacy and safety of migalastat compared to enzyme replacement therapy in Fabry disease: phase 3 study results. Mol. Genet. Metab. 114, S57 (2015).
Warnock, D. G. et al. Oral migalastat HCl leads to greater systemic exposure and tissue levels of active α-galactosidase A in Fabry patients when co-administered with infused agalsidase. PLoS ONE 10, e0134341 (2015).
Lenders, M. et al. Serum-mediated inhibition of enzyme replacement therapy in Fabry disease. J. Am. Soc. Nephrol. 27, 256–264 (2016).
Sanchez-Fernandez, E. M., Garcia Fernandez, J. M. & Mellet, C. O. Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases. Chem. Commun. 52, 5497–5515 (2016).
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M.G. has received a travel grant from Shire HGT. G.S.-P. has received funding from Amicus, Sanofi-Genzyme, and Shire HGT. G.S.-P. and M.G. are investigators of the ATTRACT trial.
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Gaggl, M., Sunder-Plassmann, G. A pharmacological chaperone on the horizon. Nat Rev Nephrol 12, 653–654 (2016). https://doi.org/10.1038/nrneph.2016.138
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DOI: https://doi.org/10.1038/nrneph.2016.138
