發(fā)布時間：2018-11-05 17:57

【摘要】：孤兒藥缺乏一直是罕見病治療中的瓶頸問題,孤兒藥市場具有極高的商業(yè)潛力。目前全球范圍內(nèi)多個國際組織合作簡化孤兒藥專利申請過程,推動孤兒藥研發(fā)、上市加速發(fā)展。中國國家罕見病注冊系統(tǒng)(NRDRS)隊列研究項目采用隊列研究方法,可最大程度地為孤兒藥臨床試驗提供便利。罕見病發(fā)病機制的研究將為孤兒藥的研發(fā)提供新的策略和切入點,尤其是孤兒藥中的基因治療和酶替代療法,其作用靶點極大依賴于對罕見病致病機制的了解。除此之外,罕見病機制的研究也將推動常見疾病藥物適應(yīng)證拓展,使部分常見疾病藥物重定位為孤兒藥。相應(yīng)地,罕見病致病機制也可能為常見疾病的新藥開發(fā)提供新的作用靶點。對于經(jīng)過臨床試驗驗證治療效果、但作用機制尚不清晰的新藥,罕見病致病機制也可提供新的思路,從而有助于解釋其作用機制。此外,由于孤兒藥批準、上市速度遠優(yōu)于常見疾病藥物,許多藥物最初作為孤兒藥上市,但后期適應(yīng)證拓展使其同樣可用于治療常見疾病,有力推動了制藥產(chǎn)業(yè)的發(fā)展。在精準醫(yī)學思想的指導下,隨著中國NRDRS的建立及完善,罕見病基因型與表型之間的關(guān)系將日趨分明,這將有效助力孤兒藥的研發(fā),進而推動中國醫(yī)藥產(chǎn)業(yè)的整體邁進。
[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.
【作者單位】： 中國醫(yī)學科學院北京協(xié)和醫(yī)學院 北京協(xié)和醫(yī)院中心實驗室;
【基金】：國家重點研發(fā)計劃精準醫(yī)學研究重點專項“罕見病臨床隊列研究”資助項目(2016YFC0901500) 上海市出生缺陷防治重點實驗室開放課題(16DZKF1007)
【分類號】：R95

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