文章基本信息

标题：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
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作者：Dominique P. Germain ; Perry M. Elliott ; Bruno Falissard 等
期刊名称：Molecular Genetics and Metabolism Reports
印刷版ISSN：2214-4269
出版年度：2019
卷号：19
页码：1-20
DOI：10.1016/j.ymgmr.2019.100454
出版社：Elsevier B.V.
摘要：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.
关键词：Fabry disease ; agalsidase alfa ; agalsidase beta ; systematic literature review ; enzyme replacement therapy ; adult male patients ; ANS autonomic nervous system ; ACEi angiotensin-converting enzyme inhibitor ; ARB angiotensin receptor blocker ; BPI Brief Pain Inventory ; CES-D Center for Epidemiologic Studies Depression Scale ; CNS central nervous system ; CR case report ; CT clinical trial ; ECG electrocardiogram/electrocardiography ; eGFR estimated glomerular filtration rate ; EOW every other week ; ERT enzyme replacement therapy ; GFR glomerular filtration rate ; GI gastrointestinal ; GL-3 globotriaosylceramide ; IVST intraventricular septum thickness ; IENFD intra-epidermal nerve fibre density ; LPWT left posterior wall thickness ; LVEDD left ventricular end-diastolic diameter ; LVEF left ventricular ejection fraction ; LVH left ventricular hypertrophy ; LVM left ventricular mass ; LVMi left ventricular mass index ; LVWT left ventricular wall thickness ; lyso-GL-3 globotriaosylsphingosine ; MG mixed gender ; MRI magnetic resonance imaging ; MWT maximal wall thickness ; NYHA New York Heart Association ; OS observational study ; PNS peripheral nervous system ; QoL quality of life ; RCT randomized controlled trial ; SF-36 36-item Short Form Health Survey ; TIA transient ischaemic attack ; WMH white matter hyperintensities.