罕见病研究与孤儿药研发

发布时间：2018-11-05 17:57

【摘要】：孤儿药缺乏一直是罕见病治疗中的瓶颈问题,孤儿药市场具有极高的商业潜力。目前全球范围内多个国际组织合作简化孤儿药专利申请过程,推动孤儿药研发、上市加速发展。中国国家罕见病注册系统(NRDRS)队列研究项目采用队列研究方法,可最大程度地为孤儿药临床试验提供便利。罕见病发病机制的研究将为孤儿药的研发提供新的策略和切入点,尤其是孤儿药中的基因治疗和酶替代疗法,其作用靶点极大依赖于对罕见病致病机制的了解。除此之外,罕见病机制的研究也将推动常见疾病药物适应证拓展,使部分常见疾病药物重定位为孤儿药。相应地,罕见病致病机制也可能为常见疾病的新药开发提供新的作用靶点。对于经过临床试验验证治疗效果、但作用机制尚不清晰的新药,罕见病致病机制也可提供新的思路,从而有助于解释其作用机制。此外,由于孤儿药批准、上市速度远优于常见疾病药物,许多药物最初作为孤儿药上市,但后期适应证拓展使其同样可用于治疗常见疾病,有力推动了制药产业的发展。在精准医学思想的指导下,随着中国NRDRS的建立及完善,罕见病基因型与表型之间的关系将日趋分明,这将有效助力孤儿药的研发,进而推动中国医药产业的整体迈进。
[Abstract]:The shortage of orphan drugs has always been a bottleneck in the treatment of rare diseases, and the market of orphan drugs has a high commercial potential. At present, a number of international organizations around the world work together to simplify the patent application process of orphan drugs, promote the development of orphan drugs, and accelerate the development of the market. The (NRDRS) cohort research project of China National rare Disease Registration system adopts a cohort study method, which can facilitate the clinical trials of orphan drugs to the greatest extent. The study of pathogenesis of rare diseases will provide new strategies and cut-in points for the research and development of orphan drugs, especially gene therapy and enzyme substitution therapy in orphan drugs. The role of the target depends greatly on the understanding of the pathogenesis of rare diseases. In addition, the study of the mechanism of rare diseases will promote the drug indications of common diseases and reposition some common diseases drugs as orphan drugs. Accordingly, the pathogenesis of rare diseases may provide new targets for the development of new drugs for common diseases. For the new drugs whose therapeutic effect is proved by clinical trials but the mechanism of action is not clear, the pathogenetic mechanism of rare diseases can also provide new ideas, which will help to explain the mechanism of its action. In addition, because of the approval of orphan drugs, the speed of marketing is far better than that of common disease drugs. Many drugs were initially listed as orphan drugs, but the later indications were expanded so that they can also be used to treat common diseases, which has greatly promoted the development of pharmaceutical industry. Under the guidance of precision medicine, with the establishment and perfection of NRDRS in China, the relationship between genotype and phenotype of rare diseases will be more and more clear, which will effectively help the development of orphan drugs and promote the development of Chinese medicine industry as a whole.
【作者单位】：中国医学科学院北京协和医学院北京协和医院中心实验室;
【基金】：国家重点研发计划精准医学研究重点专项“罕见病临床队列研究”资助项目(2016YFC0901500) 上海市出生缺陷防治重点实验室开放课题(16DZKF1007)
【分类号】：R95

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