美国罕见病自然史研究资助计划介绍及启示

Introduction and insights from U.S.grants for natural history studies in rare diseases

罕见病由于患病人数少,疾病自然史不明等原因,导致药物研发难度大,已成为世界难题之一。为解决此难题,美国食品和药物管理局(FDA)于2016年首次对罕见病自然史研究提供资助。FDA对罕见病自然史的资助通过专门的机构来管理,从资助申请的提交到确认获得资助,再到资助期限结束,有一套完整的监管流程。我国罕见病自然史处于初步探索阶段,在政策方面和研究资助方面与美国存在一定的差距,建议结合我国实际,出台专门的罕见病法律法规,建立罕见病研究管理机构,设立罕见病专项资助计划,继续完善国家罕见病注册系统,发挥健康促进和社会支持的作用。

Rare diseases have become one of difficult problems in the world because of its small number of patients and unknown natural history.In order to solve the problem,the U.S.Food&Drug Administration(FDA)provided the first funding for natural history research of rare diseases in 2016,which is managed through specialized agencies with a whole regulatory process including submission of a grant application,confirmation of grant receipt,and the end of the grant period.The natural history of rare diseases in China is still in the preliminary stage of exploration,and there is a disparity between China and the U.S.in terms of both policy and funding.Combined with the actual development in China,it is suggested that special laws and regulations for rare diseases should be enacted,the rare disease research management institution and the special funding programs should be established,the national rare disease registration system should continue to be improved,and health promotion and social support should be provided.