Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

@article{Germain2016TreatmentOF,
  title={Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.},
  author={Dominique P. Germain and Derralynn A. Hughes and Kathy Nicholls and Daniel G Bichet and Roberto Giugliani and William R. Wilcox and Claudio Feliciani and Suma P. Shankar and Fatih Ezgu and Hernan M. Amartino and Drago Bratkovic and Ulla Feldt-Rasmussen and Khan Nedd and Usama A A Sharaf El Din and Charles Marques Lourenço and Maryam Banikazemi and Joel Charrow and Majed Dasouki and David N Finegold and Pilar Giraldo and Ozlem Goker-Alpan and Nicola Longo and Clifton R. Scott and Roser Torra and Ahmad M. Tuffaha and Ana Mitrovi{\'c} Jovanovi{\'c} and Stephen Waldek and Seymour Packman and Elizabeth A. Ludington and Christopher Viereck and John Kirk and Julie Yu and Elfrida R. Benjamin and Franklin K. Johnson and David J Lockhart and Nina Skuban and Jeffrey P. Castelli and Jay Barth and Carrolee Barlow and Raphael Schiffmann},
  journal={The New England journal of medicine},
  year={2016},
  volume={375 6},
  pages={
          545-55
        }
}
BACKGROUND Fabry's disease, an X-linked disorder of lysosomal α-galactosidase deficiency, leads to substrate accumulation in multiple organs. Migalastat, an oral pharmacologic chaperone, stabilizes specific mutant forms of α-galactosidase, increasing enzyme trafficking to lysosomes. METHODS The initial assay of mutant α-galactosidase forms that we used to categorize 67 patients with Fabry's disease for randomization to 6 months of double-blind migalastat or placebo (stage 1), followed by open… 

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