CONTEXT: @entity2314 is a @entity209 without a specific treatment, caused by a deficiency of the lysosomal enzyme @entity10153 ( @entity10153 ). Most @entity1 experience debilitating @entity9 and premature mortality because of @entity177 , @entity65 , or @entity66 . OBJECTIVE: To evaluate the safety and efficacy of intravenous @entity10153 for @entity2314 . DESIGN AND SETTING: Double-blind placebo-controlled trial conducted from December 1998 to August 1999 at the Clinical Research Center of the National Institutes of Health. @entity1 : Twenty-six hemizygous male @entity1 , aged 18 years or older, with @entity2314 that was confirmed by @entity10153 assay. INTERVENTION: A dosage of 0.2 mg/kg of @entity10153 , administered intravenously every other week (12 doses total). MAIN OUTCOME MEASURE: Effect of therapy on @entity9 while without @entity9 medications measured by question 3 of the Brief @entity158 Inventory (BPI). RESULTS: Mean (SE) BPI @entity9 severity score declined from 6.2 (0.46) to 4.3 (0.73) in @entity1 treated with @entity10153 vs no significant change in the placebo group (P =.02). @entity158 -related quality of life declined from 3.2 (0.55) to 2.1 (0.56) for @entity1 receiving @entity10153 vs 4.8 (0.59) to 4.2 (0.74) for placebo (P =.05). In the kidney, glomeruli with mesangial widening decreased by a mean of 12.5% for @entity1 receiving alpha-gal vs a 16.5% increase for placebo (P =.01). Mean inulin clearance decreased by 6.2 mL/min for @entity1 receiving @entity10153 vs 19.5 mL/min for placebo (P =.19). Mean @entity1011 clearance increased by 2.1 mL/min (0.4 mL/s) for @entity1 receiving @entity10153 vs a decrease of 16.1 mL/min (0.3 mL/s) for placebo (P =.02). In @entity1 treated with @entity10153 , there was an approximately 50% reduction in plasma glycosphingolipid levels, a significant improvement in cardiac conduction, and a significant increase in body weight. CONCLUSION: Intravenous infusions of @entity10153 are safe and have widespread therapeutic efficacy in @entity2314 .

Enzyme replacement therapy in XXXX : a randomized controlled trial.

@entity1 :: ('9606', 'Species') :: ['patients', 'PATIENTS'] @entity66 :: ('MESH:D004194', 'Disease') :: ['cerebrovascular disease'] @entity177 :: ('MESH:D051437', 'Disease') :: ['renal failure'] @entity2314 :: ('MESH:D000795', 'Disease') :: ['Fabry disease'] @entity65 :: ('MESH:D002318', 'Disease') :: ['cardiovascular disease'] @entity158 :: ('MESH:D010146', 'Disease') :: ['Pain'] @entity209 :: ('MESH:D008659', 'Disease') :: ['metabolic disorder'] @entity1011 :: ('MESH:D003404', 'Chemical') :: ['creatinine'] @entity9 :: ('MESH:D009437', 'Disease') :: ['neuropathic pain'] @entity10153 :: ('2717', 'Gene') :: ['alpha-gal A', 'alpha-galactosidase A']
@entity2314 :: (MESH:D000795,Disease) :: ['Fabry disease']
