The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts.

Germain DP, Elliott PM, Falissard B, Fomin VV, Hilz MJ, Jovanovic A, Kantola I, Linhart A, Mignani R, Namdar M, Nowak A, Oliveira JP, Pieroni M, Viana-Baptista M, Wanner C, Spada M (2019)

Publication Type: Journal article, Review article

Publication year: 2019

Journal

Book Volume: 19

DOI: 10.1016/j.ymgmr.2019.100454

Abstract

Background: Enzyme replacement therapy (ERT) with recombinant human α-galactosidase has been available for the treatment of Fabry disease since 2001 in Europe and 2003 in the USA. Treatment outcomes with ERT are dependent on baseline patient characteristics, and published data are derived from heterogeneous study populations. Methods: We conducted a comprehensive systematic literature review of all original articles on ERT in the treatment of Fabry disease published up until January 2017. This article presents the findings in adult male patients. Results: Clinical evidence for the efficacy of ERT in adult male patients was available from 166 publications including 36 clinical trial publications. ERT significantly decreases globotriaosylceramide levels in plasma, urine, and in different kidney, heart, and skin cell types, slows the decline in estimated glomerular filtration rate, and reduces/stabilizes left ventricular mass and cardiac wall thickness. ERT also improves nervous system, gastrointestinal, pain, and quality of life outcomes. Conclusions: ERT is a disease-specific treatment for patients with Fabry disease that may provide clinical benefits on several outcomes and organ systems. Better outcomes may be observed when treatment is started at an early age prior to the development of organ damage such as chronic kidney disease or cardiac fibrosis. Consolidated evidence suggests a dose effect. Data described in male patients, together with female and paediatric data, informs clinical practice and therapeutic goals for individualized treatment.

Authors with CRIS profile

Involved external institutions

Versailles Saint-Quentin-en-Yvelines University / Université de Versailles Saint-Quentin-en-Yvelines (UVSQ) France (FR) University College London (UCL) United Kingdom (GB) University of Paris 5 - René Descartes / Université Paris V René Descartes France (FR) I.M. Sechenov First Moscow State Medical University Russian Federation (RU) Salford Royal NHS Foundation Trust United Kingdom (GB) University of Turku / Turun yliopisto Finland (FI) Univerzita Karlova v Praze / Charles University in Prague Czech Republic (CZ) Ospedale Infermi di Rimini Italy (IT) Geneva University Hospitals / Hôpitaux universitaires de Genève (HUG) Switzerland (CH) Universidade do Porto Portugal (PT) Ospedale San Donato Italy (IT) Centro Hospitalar de Lisboa Ocidental E.P.E. (CHLO) Portugal (PT) Julius-Maximilians-Universität Würzburg Germany (DE) University of Turin / Università degli Studi di Torino (UNITO) Italy (IT) Universitätsspital Zürich (USZ) Switzerland (CH)

How to cite

APA:

Germain, D.P., Elliott, P.M., Falissard, B., Fomin, V.V., Hilz, M.-J., Jovanovic, A.,... Spada, M. (2019). The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts. Molecular Genetics and Metabolism Reports, 19. https://doi.org/10.1016/j.ymgmr.2019.100454

MLA:

Germain, Dominique P., et al. "The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts." Molecular Genetics and Metabolism Reports 19 (2019).

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