Fabry disease is a rare, inherited disorder due to deficiency of lysosomal \u03b1-galactosidase A leading to multisystem disease and early death.<\/p>\n
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.\u00a0 (By Dr. Christopher Viereck, http:\/\/jmg.bmj.com\/content\/early\/2016\/11\/10\/jmedgenet-2016-104178<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":" Fabry disease is a rare, inherited disorder due to deficiency of lysosomal \u03b1-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 […]<\/p>\n