[Patient database and orphan drug development].
[Patient database and orphan drug development].
复制标题
[患者数据库和孤儿药开发]。
DOI：
10.1248/yakushi.13-00256-4
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发表时间：
2014
期刊：
影响因子：
--
通讯作者：
Y. Kanatani
中科院分区：
文献类型：
--
作者：
H. Mizushima;Mai Tanabe;Y. Kanatani
自1972年以来，除了难治性疾病（Nambyo）外，没有罕见病（RD）的概念。1995年，南宫的定义包含了稀缺性的概念，日本人口中出现南宫的频率不到5万。目前，南洋被选定为特殊研究支援对象，并享受特殊医疗费用待遇。研究预算为100亿日元。接受医疗服务的人数估计约为70万。已经为南比约制定的措施并不全面，因此目前正在设想若干其他措施。我们现在正计划加入孤儿院。日本孤儿院的期望是：加强国际研发合作，以日语提供国际最新的研发信息，为南宫的历史和最新研究提供信息，促进信息交流、联合研究和网络建设。有必要为罕见病患者注册，并希望有一个结构，以相同的概念整合全球注册。最近成立了“国际罕见病研究联盟”（IRDiRC）。该联盟的目的是对罕见病研究进行国际协调，整合罕见病研究知识。我们还将讨论患者倡导组织的患者注册，包括患者报告的结果（PRO）。
There is no concept of rare disease (RD) but Nambyo (intractable disease) since 1972. In 1995 the definition of Nambyo included the concept of rareness and the frequency for a Nambyo is less than 50000 in Japanese population. Currently Nambyo are selected for special research support, and special treatment of medical expenses. The budget for research is 10 billion yen. The approximate number of medical recipients is estimated to be 700000. The measures already developed for Nambyo are not comprehensive, therefore currently several additional measures are being envisaged. We are now planning to join the Orphanet. The expectations for Orphanet Japan are to: Enhance international collaboration of RD, providing international up-to-date information of RD in Japanese, inform historical and up-to-date research of Nambyo, and promote information exchange, joint research and network establishment. It is necessary to make a Patient Registry for rare disease, and hopefully have a structure to integrate worldwide registry with same concept. Recently "International Rare Disease Research Consortium (IRDiRC)" was formed. The purpose of this consortium is to make an international coordination of the rare disease research, and to integrate the knowledge of the rare disease research. We will also talk about the Patient Registry by Patient Advocacy group, including Patient Reported Outcome (PRO).