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

  title={Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.},
  author={Dominique P Germain and Derralynn Hughes and Kathleen Nicholls and Daniel Georges Bichet and Roberto Giugliani and William R Wilcox and Claudio Feliciani and Suma P Shankar and Fatih S{\"u}heyl Ezgu and Hern{\'a}n M Amartino and Drago Bratkovic and Ulla Feldt-Rasmussen and Khan J Nedd and Usama A A Sharaf El Din and Charles M Lourenço and Maryam Banikazemi and Joel Charrow and Majed J. Dasouki and David Finegold and Pilar Giraldo and Ozlem Goker-Alpan and Nicola Longo and C. Ronald Scott and Roser Torr{\'a} and Ahmad M. Tuffaha and Ana S. Jovanovic and Stephen Waldek and Seymour Packman and Elizabeth Ludington and Christopher Viereck and John Kirk and Julie L Yu and Elfrida R. Benjamin and Franklin Johnson and David J. Lockhart and Nina Skuban and Jeff Castelli and Jay Barth and Carrolee Barlow and Raphael Schiffmann},
  journal={The New England journal of medicine},
  volume={375 6},
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… CONTINUE READING
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