Enzyme replacement therapy in Fabry disease: a randomized controlled trial
R Schiffmann, JB Kopp, HA Austin III, S Sabnis… - Jama, 2001 - jamanetwork.com
ContextFabry disease is a metabolic disorder without a specific treatment, caused by a
deficiency of the lysosomal enzyme α-galactosidase A (α-gal A). Most patients experience
debilitating neuropathic pain and premature mortality because of renal failure,
cardiovascular disease, or cerebrovascular disease. ObjectiveTo evaluate the safety and
efficacy of intravenous α-gal A for Fabry disease. Design and SettingDouble-blind placebo-
controlled trial conducted from December 1998 to August 1999 at the Clinical Research …
deficiency of the lysosomal enzyme α-galactosidase A (α-gal A). Most patients experience
debilitating neuropathic pain and premature mortality because of renal failure,
cardiovascular disease, or cerebrovascular disease. ObjectiveTo evaluate the safety and
efficacy of intravenous α-gal A for Fabry disease. Design and SettingDouble-blind placebo-
controlled trial conducted from December 1998 to August 1999 at the Clinical Research …