Why systematic literature reviews in Fabry disease should include all published evidence
Elliott PM, Germain DP, Hilz MJ, Spada M, Wanner C, Falissard B (2019)
Publication Type: Journal article, Review article
Publication year: 2019
Journal
Article Number: 103702
DOI: 10.1016/j.ejmg.2019.103702
Abstract
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 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 the 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 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.
Authors with CRIS profile
Involved external institutions
University College London (UCL)
United Kingdom (GB)
Versailles Saint-Quentin-en-Yvelines University / Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)
France (FR)
University of Turin / Università degli Studi di Torino (UNITO)
Italy (IT)
Universitätsklinikum Würzburg
Germany (DE)
University of Paris 11 - Paris-Sud / Université Paris XI Paris-Sud
France (FR)
United Kingdom (GB)
Versailles Saint-Quentin-en-Yvelines University / Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)
France (FR)
University of Turin / Università degli Studi di Torino (UNITO)
Italy (IT)
Universitätsklinikum Würzburg
Germany (DE)
University of Paris 11 - Paris-Sud / Université Paris XI Paris-Sud
France (FR)
How to cite
APA:
Elliott, P.M., Germain, D.P., Hilz, M.-J., Spada, M., Wanner, C., & Falissard, B. (2019). Why systematic literature reviews in Fabry disease should include all published evidence. European Journal of Medical Genetics. https://dx.doi.org/10.1016/j.ejmg.2019.103702
MLA:
Elliott, Perry M., et al. "Why systematic literature reviews in Fabry disease should include all published evidence." European Journal of Medical Genetics (2019).
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