The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease - A systematic literature review by a European panel of experts.
Germain DP, Arad M, Burlina A, Elliott PM, Falissard B, Feldt-Rasmussen U, Hilz MJ, Hughes DA, Ortiz A, Wanner C, Weidemann F, Spada M (2019)
Publication Type: Journal article
Publication year: 2019
Journal
Book Volume: 126
Pages Range: 224-235
Journal Issue: 3
DOI: 10.1016/j.ymgme.2018.09.007
Abstract
BACKGROUND: Heterozygous females with Fabry disease have a wide range of clinical phenotypes depending on the nature of their mutation and their X-chromosome inactivation pattern; it is therefore important to examine outcomes of enzyme replacement therapy (ERT) in the female patient population specifically. This paper presents the findings of a systematic literature review of treatment outcomes with ERT in adult female patients. METHODS: A comprehensive systematic literature review was conducted through January 2017 to retrieve published papers with original data on ERT in the treatment of Fabry disease. The review included all original articles that presented ERT outcomes data on patients with Fabry disease, irrespective of the study type. RESULTS: Clinical evidence for the efficacy of ERT in female patients was available from 67 publications including six clinical trial publications, and indicates significant reductions in plasma and urine globotriaosylceramide (GL-3) accumulation (in female patients with elevated pre-treatment levels) and improvements in cardiac parameters and quality of life (QoL). To date, data are insufficient to conclude on the effects of ERT on the nervous system, gastrointestinal manifestations, and pain in female patients with Fabry disease. CONCLUSIONS: This review of available literature data demonstrates that ERT in adult female patients with Fabry disease has a beneficial effect on GL-3 levels and cardiac outcomes. The current evidence also suggests that ERT may improve QoL in this patient population, though further studies are needed to examine these results.
Authors with CRIS profile
Involved external institutions
École Polytechnique - Université Paris-Saclay
France (FR)
Chaim Sheba Medical Center at Tel HaShomer / המרכז הרפואי עש חיים שיבא – תל השומר
Israel (IL)
Ospedale san Bassiano
Italy (IT)
University College London (UCL)
United Kingdom (GB)
Copenhagen University Hospital
Denmark (DK)
Julius-Maximilians-Universität Würzburg
Germany (DE)
Katharinenhospital Stuttgart
Germany (DE)
University of Paris 5 - René Descartes / Université Paris V René Descartes
France (FR)
University of Turin / Università degli Studi di Torino (UNITO)
Italy (IT)
France (FR)
Chaim Sheba Medical Center at Tel HaShomer / המרכז הרפואי עש חיים שיבא – תל השומר
Israel (IL)
Ospedale san Bassiano
Italy (IT)
University College London (UCL)
United Kingdom (GB)
Copenhagen University Hospital
Denmark (DK)
Julius-Maximilians-Universität Würzburg
Germany (DE)
Katharinenhospital Stuttgart
Germany (DE)
University of Paris 5 - René Descartes / Université Paris V René Descartes
France (FR)
University of Turin / Università degli Studi di Torino (UNITO)
Italy (IT)
How to cite
APA:
Germain, D.P., Arad, M., Burlina, A., Elliott, P.M., Falissard, B., Feldt-Rasmussen, U.,... Spada, M. (2019). The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease - A systematic literature review by a European panel of experts. Molecular Genetics and Metabolism, 126(3), 224-235. https://doi.org/10.1016/j.ymgme.2018.09.007
MLA:
Germain, Dominique P., et al. "The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease - A systematic literature review by a European panel of experts." Molecular Genetics and Metabolism 126.3 (2019): 224-235.
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