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

@article{Germain2016TreatmentOF,
  title={Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.},
  author={D. Germain and D. Hughes and K. Nicholls and Daniel G. Bichet and R. Giugliani and W. Wilcox and C. Feliciani and Suma P. Shankar and F. Ezgu and H. Amartino and D. Bratkovic and U. Feldt-Rasmussen and K. Nedd and Usama A A Sharaf El Din and C. Lourenço and M. Banikazemi and J. Charrow and M. Dasouki and D. Finegold and P. Giraldo and O. Goker‐Alpan and N. Longo and C. Scott and R. Torra and A. Tuffaha and A. Jovanovi{\'c} and S. Waldek and S. Packman and E. Ludington and Christopher Viereck and J. Kirk and J. Yu and Elfrida R. Benjamin and F. Johnson and David J. Lockhart and Nina Skuban and Jeff Castelli and J. Barth and C. Barlow and R. Schiffmann},
  journal={The New England journal of medicine},
  year={2016},
  volume={375 6},
  pages={
          545-55
        }
}
  • D. Germain, D. Hughes, +37 authors R. Schiffmann
  • Published 2016
  • Medicine
  • The New England journal of medicine
  • 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

    Paper Mentions

    OBSERVATIONAL CLINICAL TRIAL
    This study evaluates adherence to the oral chaperone therapy migalastat in patients with Fabry disease.  
    ConditionsAdherence, Medication, Fabry Disease, Quality of Life, (+1 more)
    OBSERVATIONAL CLINICAL TRIAL
    Anderson-Fabry Disease (AFD) is one of the rare lysosomal storage disorders for which a cause - specific therapy is available. Recently, a new specific drug has been marketed, namely… Expand
    ConditionsFabry Disease, Heart Diseases
    InterventionDiagnostic Test
    Migalastat: A Review in Fabry Disease
    11
    Migalastat for the treatment of Fabry disease
    3
    Treatment in Fabry disease
    2

    References

    Publications referenced by this paper.
    SHOWING 1-10 OF 52 REFERENCES
    Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor
    509
    The kidney in Fabry's disease
    35