Enzyme replacement therapy for Anderson-Fabry disease

摘要: Background Anderson-Fabry disease is an X-linked defect of glycosphingolipid metabolism. Progressive renal insufficiency a major source morbidity, additional complications result from cardio- and cerebro-vascular involvement. Survival reduced among affected males symptomatic female carriers. This update Cochrane review first published in 2010, previously updated 2013. Objectives To evaluate the effectiveness safety enzyme replacement therapy compared to other interventions, placebo or no for treating Anderson-Fabry disease. Search methods We searched Cystic Fibrosis Genetic Disorders Group's Inborn Errors Metabolism Trials Register (date most recent search: 08 July 2016). We also 'Clinical Trials' on The Library, MEDLINE, Embase LILACS 24 September 2015). Selection criteria Randomized controlled trials agalsidase alfa beta participants diagnosed with disease. Data collection analysis Two authors selected relevant trials, assessed methodological quality extracted data. Main results Nine comparing either 351 fulfilled selection criteria. Both reported globotriaosylceramide concentration plasma tissue; aggregate results were non-significant. One trial pain scores measured by Brief Pain Inventory severity, there was statistically significant improvement receiving treatment at up three months, mean difference -2.10 (95% confidence interval -3.79 -0.41; five -1.90 -3.65 -0.15); six -2.00 -3.66 -0.34). There pain-related life over months -3.92 -0.28) but not time points. Death outcome trials. One tissue showed improvement: kidney, -1.70 -2.09 -1.31); heart, -0.90 -1.18 -0.62); composite (renal, cardiac, cerebrovascular death), -4.80 -5.45 -4.15). between groups death; pain. Only two beta. them regarding adverse events, risk ratio 0.36 0.08 1.59), any serious events; 0.30; 0.03 2.57). Two different dosing schedules alfa. involved doses (0.2 mg/kg every weeks; 0.1 weekly and; 0.2 weekly), evaluated further dosage schedules: 0.4 week week. Both failed show differences various levels. No found primary efficacy self-assessed health state, scores. One events such as dyspnoea hypertension. The included generally unclear random sequence generation allocation concealment. Authors' conclusions Trials regard microvascular endothelial deposits life. is, however, evidence identifying if form superior optimal dose frequency therapy. With regards safety, (i.e., rigors, fever) more placebo. long-term influence morbidity mortality related remains be established. This highlights need continued research into use disease.