Rare diseases and the assessment of intervention: What sorts of clinical trials can we use?
Rare diseases and the assessment of intervention: What sorts of clinical trials can we use?
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DOI：
10.1023/a:1010387522195
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发表时间：
2001-04-01
影响因子：
4.2
通讯作者：
Wilcken, B
中科院分区：
文献类型：
--
作者：
Wilcken, B
人们越来越强调实践循证医学的重要性。随机对照试验是评估干预措施益处的标准方法，观察性研究通常不被赋予太多权重；结果很可能被认为具有误导性。对于罕见病，很难获得足够的证据进行干预或早期诊断。这是因为这些疾病不仅非常罕见，而且还具有可变的表达，可能有很长的病程，并且有不完全已知的晚期影响；通常需要使用代理端点。随机对照试验通常是不可能的，因为没有足够的力量，也因为人们对已经使用的治疗方法的效果有先入为主的看法。采用尽可能最佳的观察性试验设计，形成这类试验的中心登记，以及对罕见疾病造成的问题有更广泛的认识，将有助于为干预措施的效果获得尽可能最佳的证据。
There is increasing emphasis on the importance of practising evidence-based medicine. Randomized controlled trials are the standard way to assess the benefits of an intervention, and observational studies are not usually accorded much weight; the results are likely to be considered misleading. For rare diseases, there are great difficulties in obtaining adequate evidence for interventions or for the benefits of early diagnosis. This is because the disorders are not only very rare but also have variable expression, may have very long courses, and have incompletely known late effects; and surrogate end-points often have to be used. Randomized controlled trials are usually impossible because of inadequate power, and because there are preconceived notions of the effects of treatments already in use. The adoption of the best possible design for observational trials, formation of a central registry of such trials, and a greater general appreciation of the problems that rare diseases pose will help in obtaining the best possible evidence for the effects of interventions.