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改变中国心血管疾病“孤儿药”现状刻不容缓 被引量：2

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摘要 “孤儿药”（ orphan drug ）在国际上的通用定义是指用于预防、诊断、治疗罕见疾病或罕见状态的药物、疫苗或试剂。世界卫生组织将罕见疾病（ rare diseases ）定义为患病人数占总人口0.65％～1.00％的疾病或病变^［1］，其中被美国国立卫生研究院（ NIH）认定的心血管系统罕见病就有130余种，包括长QT综合征、Brugada综合征、致心律失常性右室心肌病、儿茶酚胺敏感性多形性室性心动过速（ catecholaminergic polymorphic ventricular tachycardia ，CPVT）、Ebstein畸形、糖原累积症、Danon病、Fabry病、左心发育不全综合征等等（ https：／／rarediseases.info.nih.gov／gard／categories ），绝大多数都是遗传性或有遗传倾向的疾病。由于“孤儿药”的商业利润极低，研发和生产成本根本无法通过销售得到回报，制药企业因无利可图而对这类药物缺乏兴趣，使得很多罕见病患者陷入无药可用的境地。这一现象在我国特别是在心血管疾病领域表现得尤为突出。
作者 白融 刘念 胡大一 马长生
机构地区 首都医科大学附属北京安贞医院心内科 北京大学人民医院心脏中心
出处 《中华心血管病杂志》 CAS CSCD 北大核心 2014年第7期543-544,共2页 Chinese Journal of Cardiology
关键词 心血管疾病 孤儿药 儿茶酚胺敏感性多形性室性心动过速 致心律失常性右室心肌病 BRUGADA综合征 美国国立卫生研究院 EBSTEIN畸形 左心发育不全综合征
分类号 R972 [医药卫生—药品]
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参考文献12

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二级参考文献36

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共引文献157

同被引文献36

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引证文献2

二级引证文献1

中华心血管病杂志
2014年 第7期

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