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
Year: 2019
Type: review
Study design: Systematic Review
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.
Institutions: Inserm, Université Paris-Saclay, University College London, Université Paris-Sud, Université Paris Descartes, Sechenov University, Friedrich-Alexander-Universität Erlangen-Nürnberg, Salford Royal NHS Foundation Trust, University of Turku, Turku University Hospital, Charles University, General University Hospital in Prague, Ospedale Infermi di Rimini, University Hospital of Geneva, University of Zurich, University Hospital Zurich, Universidade do Porto, Hospital de São João, i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Ospedale San Donato, Hospital de Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Universidade Nova de Lisboa, University of Würzburg, Universitätsklinikum Würzburg, University of Turin
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $1,750
OpenAlex ID: W2802547448