Power of Rare Diseases: Found in Translation
Power of Rare Diseases: Found in Translation
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DOI：
10.1126/scitranslmed.3006800
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发表时间：
2013-09-04
影响因子：
17.1
通讯作者：
Fishman, Mark C.
中科院分区：
文献类型：
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作者：
Fishman, Mark C.
除了已确定的遗传证据外，疾病发病机制模型的最佳证据还取决于临床试验中靶向药物的预测扰动。在这里，我讨论了对机械同质人群（通常是患有罕见疾病的小群体）进行探索性首次人体临床研究的策略，作为全面注册临床试验的常规入口。在过去的十年中，这种方法证明了一些致病理论，反驳了其他理论，并指导研究人员走向新的科学方向。直接的优势是较小的试验和为罕见疾病提供新的治疗方法。后来，适应症通常可以扩展到更常见疾病的子集。
Aside from established genetic evidence, the best proof of a model for disease pathogenesis rests on predicted perturbation via targeted medicines in clinical trials. Here, I discuss the strategy of performing exploratory first-in-human clinical studies on mechanistically homogeneous populations (often small groups of patients with rare diseases) as a routine entrance to full-registration clinical trials. Over the past decade, this approach has proved some pathogenic theories, disproved others, and guided investigators in new scientific directions. The immediate advantages have been smaller trials and provision of new treatments for rare diseases. Later, indications often can be expanded to subsets of more common diseases.