Enzyme replacement therapy for Anderson-Fabry Disease: systematic review of randomized clinical trials

Abstract

Anderson-Fabry disease, a rare disease, is caused by a deficiency of the enzyme alpha-galactosidase A. This leads to the accumulation of a fatty matter called globotriaosylceramide in various cells of the body. Globotriaosyl ceramide is a fatty substance made up of three sugars, commonly called ceramide, and is found in most cells in the body. Untreated individuals may experience pain, skin and eye complications, and gastrointestinal problems. Fabry disease can cause fatal complications such as kidney damage, stroke, and stroke. One of the types of treatment available is an enzyme-altering therapy with agalsidase alfa or beta, which replaces the enzyme deficiency. Objective: We will evaluate the efficacy and safety of enzyme replacement therapy with alpha or beta agalsidase for Anderson-Fabry disease. Methods: Systematic review of randomized controlled trials (RCTs) and/or quasi-RCTs studies that assessed enzyme replacement therapy with alpha or beta agalsidase for Anderson-Fabry disease. There will be no language restrictions. We will search the registry of metabolic errors clinical trials of the Cochrane group of cystic fibrosis and genetic diseases, and in the following databases: MEDLINE, EMBASE, LILACS, and clinictrials.gov. Reference lists of potentially eligible studies will also be scrutinized and experts in the field will be contacted to identify further studies. Reviewers will independently examine eligible articles, extract data and assess the risk of bias. The GRADE approach will be used to evaluate the general certainty of evidence. This review is registered with Cochrane and will be carried out in conjunction with the Cystic Fibrosis and Genetic Diseases group. (AU)