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Fabry disease is an X-linked inherited, progressive disorder of lipid metabolism resulting from the deficient activity of the enzyme α-galactosidase. Enzyme replacement therapy (ERT) with recombinant agalsidase, with intravenous infusions of either agalsidase beta or agalsidase alfa, is available and clinical experience now exceeds 15 years. There are very few randomised, placebo-controlled clinical trials evaluating the outcomes of enzyme replacement therapy (ERT). Data are often derived from observational, registry-based studies and case reports. Pooled analysis of data from different sources may be limited by the heterogeneity of the patient populations, outcomes and treatment. Therefore, comprehensive systematic literature reviews of unpooled data are needed to determine the effects of ERT on disease outcomes. A systematic literature search was conducted in Embase and PubMed (MEDLINE) databases to retrieve original articles that evaluated outcomes of ERT in patients with Fabry disease; the outcome data were analysed unpooled. The literature analysis included the full range of published literature including observational studies and case series/case reports. Considerable heterogeneity was found among the studies, with differences in sample size, statistical methods, ERT regimens and patient demographic and clinical characteristics. We have demonstrated the value of performing an unpooled systematic literature review of all published evidence of ERT outcomes in Fabry disease, highlighting that in a rare genetic disorder like Fabry disease, which is phenotypically diverse, different patient populations can require different disease management and therapeutic goals depending on patient age, genotype, and disease severity/level of organ involvement. In addition, these findings are valuable to guide the design and reporting of new clinical studies.
This article was published in the following journal.
Name: European journal of medical genetics
Prior studies have documented the exponential increase in the number of systematic reviews (SRs) published in the urological literature . Unfortunately, not all systematic reviews are created equal...
Many systematic reviews (SRs) have been published about the various treatments for distal radius fractures (DRF). The heterogeneity of SRs results may come from the misuse of SR methods, and literatur...
To report systematic review definitions that are published in overviews of reviews and to propose a new classification of systematic reviews.
Systematic review has generally been accepted as an effective, more complete, repeatable, and less biased type literature review that can successfully lead to evidence-based conclusions. This study at...
The FAbry STabilization indEX (FASTEX) is an innovative index allowing the assessment of clinical stability over time in Fabry disease patients. This index was developed in a population of 28 male pat...
The purpose of this study is to collect data that will increase understanding of Fabry disease history and progression, in treated and untreated patients with Fabry disease. The data from ...
The Fabry Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Fabry disease, irrespective of trea...
Cerebrovascular events, such as stroke, are a devastating complication of Fabry disease that results in part from storage of complex lipids in both large and small vessels. Understanding h...
The rational of the study is to try to predict which of the patients who suffer from Fabry disease will have End Stage Renal Disease. We hope to find correlation between certain modifier g...
Cardiac complications occur in 78% of patients with Fabry disease and are mainly characterized by a high frequency of left ventricular hypertrophy resulting from an accumulation of GL3 in ...
An article or book published after examination of published material on a subject. It may be comprehensive to various degrees and the time range of material scrutinized may be broad or narrow, but the reviews most often desired are reviews of the current literature. The textual material examined may be equally broad and can encompass, in medicine specifically, clinical material as well as experimental research or case reports. State-of-the-art reviews tend to address more current matters. A review of the literature must be differentiated from HISTORICAL ARTICLE on the same subject, but a review of historical literature is also within the scope of this publication type.
Published materials which provide an examination of recent or current literature. Review articles can cover a wide range of subject matter at various levels of completeness and comprehensiveness based on analyses of literature that may include research findings. The review may reflect the state of the art. It also includes reviews as a literary form.
Works consisting of studies using a quantitative method of combining the results of independent studies (usually drawn from the published literature) and synthesizing summaries and conclusions which may be used to evaluate therapeutic effectiveness, plan new studies, etc. It is often an overview of clinical trials. It is usually called a meta-analysis by the author or sponsoring body and should be differentiated from reviews of literature.
A process that searches for hidden and important connections among information embedded in published literature.
An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.
Enzymes are proteins that catalyze (i.e., increase the rates of) chemical reactions. In enzymatic reactions, the molecules at the beginning of the process, called substrates, are converted into different molecules, called products. Almost all chemical re...
Recombinant DNA is the formation of a novel DNA sequence by the formation of two DNA strands. These are taken from two different organisms. These recombinant DNA molecules can be made with recombinant DNA technology. The procedure is to cut the DNA of ...
Clinical trials are a set of procedures in medical research conducted to allow safety (or more specifically, information about adverse drug reactions and adverse effects of other treatments) and efficacy data to be collected for health interventions (e.g...