Journal article
Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies.
DP Germain, R Giugliani, DA Hughes, A Mehta, K Nicholls, L Barisoni, CJ Jennette, A Bragat, J Castelli, S Sitaraman, DJ Lockhart, PF Boudes
Orphanet Journal of Rare Diseases | Published : 2012
Abstract
Fabry disease (FD) is a genetic disorder resulting from deficiency of the lysosomal enzyme α-galactosidase A (α-Gal A), which leads to globotriaosylceramide (GL-3) accumulation in multiple tissues. We report on the safety and pharmacodynamics of migalastat hydrochloride, an investigational pharmacological chaperone given orally at 150 mg every-other-day. Two open-label uncontrolled phase 2 studies of 12 and 24 weeks (NCT00283959 and NCT00283933) in 9 males with FD were combined. At multiple time points, α-Gal A activity and GL-3 levels were quantified in blood cells, kidney and skin. GL-3 levels were also evaluated through skin and renal histology. Compared to baseline, increased α-Gal A act..
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Awarded by National Center for Advancing Translational Sciences
Funding Acknowledgements
DPG is an investigator for Amicus and has received research funding, consultancy fees, and travel expenses from Genzyme and Shire HGT. RG is a consultant and investigator for Actelion, Amicus, BioMarin, Genzyme and Shire HGT. DAH is a consultant for Amicus, Shire HGT, Genzyme, Actelion, has Speaker's Bureau for Amicus, Shire HGT, Genzyme, and Actelion, and has received grants from Amicus, Shire HGT, and Genzyme. KN has received travel and research support and speaker's honoraria from Amicus, Shire HGT and Genzyme. AM has received honoraria, research funding, consultancy fees, and travel expenses from Shire HGT, Genzyme, Actelion, Protalix, and Amicus. AB, JC, SS, DJL and PFB are Amicus employees.