Conducting clinical research in patients with rare diseases presents a variety of challenges. At the same time, rare diseases represent a large area of unmet medical need with a significant burden of morbidity throughout the world. One of the most common issues with designing clinical trials for rare disease populations is that the gold-standard randomized controlled trial design is often not feasible in these small and usually geographically dispersed populations. Real world data therefore has particular relevance in the rare disease setting, where it may be used as a comparator for single-arm treatment trials and in support of submissions to regulatory agencies for drugs to treat these conditions. In this report, we review the potential utility and limitations of external controls for regulatory approval of drugs in rare diseases and present a recent case example of the successful utilization of external controls in the Neurofibromatosis type 1 (NF1) population.

对罕见病患者进行临床研究面临着各种挑战。与此同时，罕见病代表了一大片未被满足的医疗需求，在世界范围内造成了沉重的发病负担。为罕见病人群设计临床试验最常见的问题之一是，黄金标准的随机对照试验设计在这些小而通常地理分散的人群中通常不可行。因此，真实世界的数据在罕见病环境中具有特别的相关性，在这种情况下，它可以用作单臂治疗试验的比较物，并支持向监管机构提交治疗这些疾病的药物。在这份报告中，