在超罕见癌症的新适应症中开发新药物或为现有药物提供证据是复杂的，并且具有很高的失败风险。这在超罕见肿瘤中变得更加困难，年发病率为每100万人口1例或更低。这里,我们说明了在超罕见肿瘤中产生足够证据的问题，使用肺泡软部分肉瘤（ASPS）-一种在欧盟每年约60人中新诊断的超罕见肉瘤-作为一个示例病例，尽管与药物类别可能相关，但在发展中显示出挑战。我们讨论了一些解决这些挑战的可能方法，特别是关注学术团体之间的建设性合作，患者和倡导者，药品制造商,和监管机构优化超罕见癌症的药物开发。这篇文章,由各种欧洲利益相关者撰写，提出了一种最终为超罕见癌症患者获得更好选择的方法。
Developing new drugs or generating evidence for existing drugs in new indications for ultra-rare cancers is complex and carries a high-risk of failure. This gets even harder in ultra-rare tumours, which have an annual incidence of 1 per 1,000,000 population or less. Here, we illustrate the problem of adequate evidence generation in ultra-rare tumours, using Alveolar Soft-Part Sarcomas (ASPS) - an ultra-rare sarcoma newly diagnosed in approximately 60 persons a year in the European Union - as an exemplar case showing challenges in development despite being potentially relevant for classes of agents. We discuss some possible approaches for addressing such challenges, especially focussing on constructive collaboration between academic groups, patients and advocates, drug manufacturers, and regulators to optimise drug development in ultra-rare cancers. This article, written by various European stakeholders, proposes a way forward to ultimately get better options for patients with ultra-rare cancers.
