Journal article
Treatment of Fabry's disease with the pharmacologic chaperone migalastat
DP Germain, DA Hughes, K Nicholls, DG Bichet, R Giugliani, WR Wilcox, C Feliciani, SP Shankar, F Ezgu, H Amartino, D Bratkovic, U Feldt-Rasmussen, K Nedd, U Sharaf El Din, CM Lourenco, M Banikazemi, J Charrow, M Dasouki, D Finegold, P Giraldo Show all
New England Journal of Medicine | MASSACHUSETTS MEDICAL SOC | Published : 2016
Abstract
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-label migalastat from 6 to 12 months (stage 2) plus an additional year, had certain limitations. Before unblinding, a new, validated assay showed that 50 of the 67 participants had mutant α-galactosid..
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Funding Acknowledgements
Funded by Amicus Therapeutics; ClinicalTrials.gov numbers, NCT00925301 [study AT1001-011] and NCT01458119 [study AT1001-041].)