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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
DP. Germain, PM. Elliott, B. Falissard, VV. Fomin, MJ. Hilz, A. Jovanovic, I. Kantola, A. Linhart, R. Mignani, M. Namdar, A. Nowak, JP. Oliveira, M. Pieroni, M. Viana-Baptista, C. Wanner, M. Spada,
Language English Country United States
Document type Journal Article, Review
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- Publication type
- Journal Article MeSH
- Review MeSH
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.
Cardiovascular Department San Donato Hospital Arezzo Italy
CEDOC Faculdade de Ciências Médicas Universidade Nova de Lisboa Lisboa Portugal
Department of Nephrology Infermi Hospital Rimini Italy
Department of Neurology University of Erlangen Nuremberg Erlangen Germany
Department of Paediatrics University of Torino Torino Italy
Division of Medicine Turku University Hospital University of Turku Turku Finland
Division of Nephrology University Clinic University of Würzburg Würzburg Germany
INSERM U1018 University of Paris Sud University of Paris Descartes Paris France
Mark Holland Metabolic Unit Salford Royal NHS Foundation Trust Salford United Kingdom
Service de Cardiologie Hôpitaux Universitaires de Genève Geneva Switzerland
Serviço de Neurologia Hospital Egas Moniz Centro Hospitalar de Lisboa Ocidental
University College London and Barts Heart Centre London United Kingdom
References provided by Crossref.org
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