作者
Ans T van der Ploeg, Michelle E Kruijshaar, Antonio Toscano, Pascal Laforêt, Corrado Angelini, Robin H Lachmann, Samuel I Pascual Pascual, Mark Roberts, Kai Rösler, Thomas Stulnig, Pieter A van Doorn, PYK Van den Bergh, John Vissing, Benedikt Schoser, European Pompe Consortium, Bruno Bembi, Alexander Broomfield, Matthias Boentert, Claude Desnuelle, Oliver Findling, Andreas Hahn, Jordi Díaz‐Manera, Thomas Hundsberger, Cornelia Kornblum, Franҫois Labarthé, Pascal Laforet, Karl‐Eugen Mengel, Tiziana Mongini, Wolfgang Muller‐Felber, Giancarlo Parenti, W Pim Pijnappel, Nicolai Preisler, Sabrina Sacconi, Beril Talim, Marine Tardieu, Nadine AME van der Beek, Stephan Wenninger
发表日期
2017/6
来源
European journal of neurology
卷号
24
期号
6
页码范围
768-e31
简介
Background and purpose
Pompe disease is a rare inheritable muscle disorder for which enzyme replacement therapy (ERT) has been available since 2006. Uniform criteria for starting and stopping ERT in adult patients were developed and reported here.
Methods
Three consensus meetings were organized through the European Pompe Consortium, a network of experts from 11 European countries in the field of Pompe disease. A systematic review of the literature was undertaken to determine the effectiveness of ERT in adult patients on a range of clinical outcome measures and quality of life. A narrative synthesis is presented.
Results
Consensus was reached on how the diagnosis of Pompe disease should be confirmed, when treatment should be started, reasons for stopping treatment and the use of ERT during pregnancy. This was based on expert opinion and supported by the literature. One clinical trial and …
学术搜索中的文章
AT van der Ploeg, ME Kruijshaar, A Toscano, P Laforêt… - European journal of neurology, 2017