Fabry disease

A pharmacological chaperone on the horizon

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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Figure 1: Mechanism of action of migalastat.

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Correspondence to Martina Gaggl or Gere Sunder-Plassmann.

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Competing interests

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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