Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study
OPEN Journal of medical genetics | 12 Nov 2016
DA Hughes, K Nicholls, SP Shankar, G Sunder-Plassmann, D Koeller, K Nedd, G Vockley, T Hamazaki, R Lachmann, T Ohashi, I Olivotto, N Sakai, P Deegan, D Dimmock, F Eyskens, DP Germain, O Goker-Alpan, E Hachulla, A Jovanovic, CM Lourenco, I Narita, M Thomas, WR Wilcox, DG Bichet, R Schiffmann, E Ludington, C Viereck, J Kirk, J Yu, F Johnson, P Boudes, ER Benjamin, DJ Lockhart, C Barlow, N Skuban, JP Castelli, J Barth and U Feldt-Rasmussen
Fabry disease is an X-linked lysosomal storage disorder caused by GLA mutations, resulting in α-galactosidase (α-Gal) deficiency and accumulation of lysosomal substrates. Migalastat, an oral pharmacological chaperone being developed as an alternative to intravenous enzyme replacement therapy (ERT), stabilises specific mutant (amenable) forms of α-Gal to facilitate normal lysosomal trafficking.
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