【摘要】：孤兒藥缺乏一直是罕見(jiàn)病治療中的瓶頸問(wèn)題,孤兒藥市場(chǎng)具有極高的商業(yè)潛力。目前全球范圍內(nèi)多個(gè)國(guó)際組織合作簡(jiǎn)化孤兒藥專利申請(qǐng)過(guò)程,推動(dòng)孤兒藥研發(fā)、上市加速發(fā)展。中國(guó)國(guó)家罕見(jiàn)病注冊(cè)系統(tǒng)(NRDRS)隊(duì)列研究項(xiàng)目采用隊(duì)列研究方法,可最大程度地為孤兒藥臨床試驗(yàn)提供便利。罕見(jiàn)病發(fā)病機(jī)制的研究將為孤兒藥的研發(fā)提供新的策略和切入點(diǎn),尤其是孤兒藥中的基因治療和酶替代療法,其作用靶點(diǎn)極大依賴于對(duì)罕見(jiàn)病致病機(jī)制的了解。除此之外,罕見(jiàn)病機(jī)制的研究也將推動(dòng)常見(jiàn)疾病藥物適應(yīng)證拓展,使部分常見(jiàn)疾病藥物重定位為孤兒藥。相應(yīng)地,罕見(jiàn)病致病機(jī)制也可能為常見(jiàn)疾病的新藥開(kāi)發(fā)提供新的作用靶點(diǎn)。對(duì)于經(jīng)過(guò)臨床試驗(yàn)驗(yàn)證治療效果、但作用機(jī)制尚不清晰的新藥,罕見(jiàn)病致病機(jī)制也可提供新的思路,從而有助于解釋其作用機(jī)制。此外,由于孤兒藥批準(zhǔn)、上市速度遠(yuǎn)優(yōu)于常見(jiàn)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(jiàn)疾病,有力推動(dòng)了制藥產(chǎn)業(yè)的發(fā)展。在精準(zhǔn)醫(yī)學(xué)思想的指導(dǎo)下,隨著中國(guó)NRDRS的建立及完善,罕見(jiàn)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(jìn)而推動(dòng)中國(guó)醫(yī)藥產(chǎn)業(yè)的整體邁進(jìn)。
[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(guó)醫(yī)學(xué)科學(xué)院北京協(xié)和醫(yī)學(xué)院 北京協(xié)和醫(yī)院中心實(shí)驗(yàn)室;
【基金】：國(guó)家重點(diǎn)研發(fā)計(jì)劃精準(zhǔn)醫(yī)學(xué)研究重點(diǎn)專項(xiàng)“罕見(jiàn)病臨床隊(duì)列研究”資助項(xiàng)目(2016YFC0901500) 上海市出生缺陷防治重點(diǎn)實(shí)驗(yàn)室開(kāi)放課題(16DZKF1007)
【分類號(hào)】：R95

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