Fabry disease is a rare, inherited disorder due to deficiency of lysosomal α-galactosidase A leading to multisystem disease and early death.
In the 18-month randomized segment of the global ATTRACT study, orally administered migalastat, a first-in-class pharmacological chaperone, was compared with intravenous enzyme replacement therapy. Migalastat and ERT had comparable effects on renal function. Migalastat was associated with a statistically significant decrease in cardiac mass whereas ERT was associated with a smaller non-significant change. Migalastat has potential as an effective and safe oral treatment for 35-50% of patients with Fabry disease who have amenable mutations. (By Dr. Christopher Viereck, http://jmg.bmj.com/content/early/2016/11/10/jmedgenet-2016-104178 )