遗传代谢性疾病相关孤儿药研究进展

Orphan drug associated with inherited metabolic diseases:research advances

遗传代谢性疾病绝大部分为罕见病。由于此类罕见病的发病机制特殊,临床表型复杂,药物研发的针对性强。因此,本文以具体疾病为例,综述遗传代谢性疾病相关孤儿药的种类,主要包括酶反应相关疗法、底物减少疗法和小分子疗法等。除阐述FDA批准的孤儿药研究历史和相关特性之外,还列举了部分正处于研发阶段的药物,以及相关假说。希望能为此类疾病的孤儿药研发提供新的思路。

Most of the inherited metabolic diseases are rare diseases. Because of the distinctive pathogeneses and complex clinical manifestations,one orphan drug often targets a certain rare disease. In this article,we focus on a particular disease,summarize the types of orphan drugs associated with inherited metabolic diseases,including enzyme-related therapy,substrate reduction therapy and small molecule therapy etc. We also illustrate the research histories of orphan drugs ratified by FDA and list orphan drugs in development processes and hypotheses,and hope to offer some new thoughts.