van der Ploeg A T, Kruijshaar M E, Toscano A, Laforêt P, Angelini C, Lachmann R H, Pascual Pascual S I, Roberts M, Rösler K, Stulnig T, van Doorn P A, Van den Bergh P Y K, Vissing J, Schoser B
Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Eur J Neurol. 2017 Jun;24(6):768-e31. doi: 10.1111/ene.13285. Epub 2017 May 6.
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.
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.
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 43 observational studies, covering a total of 586 individual adult patients, provided evidence of a beneficial effect of ERT at group level. At individual patient level, the response to treatment varied, but factors associated with a patient's response to ERT were not described in many studies. Eleven observational studies focused on more severely affected patients, suggesting that ERT can also be beneficial in these patients. There are no studies on the effects of ERT in pre-symptomatic patients.
This is the first European consensus recommendation for starting and stopping ERT in adult patients with Pompe disease, based on the extensive experience of experts from different countries.
庞贝病是一种罕见的遗传性肌肉疾病，自2006年起已有酶替代疗法（ERT）。本文制定并报告了成人患者开始和停止ERT的统一标准。
通过欧洲庞贝病联盟组织了三次共识会议，该联盟是一个由来自欧洲11个国家的庞贝病领域专家组成的网络。对文献进行了系统综述，以确定ERT在一系列临床结局指标和生活质量方面对成人患者的有效性。进行了叙述性综合分析。
就庞贝病的诊断应如何确认、何时开始治疗、停止治疗的原因以及孕期ERT的使用达成了共识。这基于专家意见并得到文献支持。一项临床试验和43项观察性研究，共涵盖586例成年个体患者，提供了ERT在组水平上有益效果的证据。在个体患者水平上，治疗反应各不相同，但许多研究未描述与患者对ERT反应相关的因素。11项观察性研究聚焦于病情更严重的患者，表明ERT对这些患者也可能有益。尚无关于ERT对症状前患者影响的研究。
基于不同国家专家的丰富经验，这是欧洲首个关于成人庞贝病患者开始和停止ERT的共识推荐。
