Rare diseases and orphan drugs
Rare diseases and orphan drugs
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DOI：
10.4415/ann_11_01_17
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发表时间：
2011-01-01
期刊：
影响因子：
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通讯作者：
Frank, Claudio
中科院分区：
文献类型：
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作者：
Taruscio, Domenica;Capozzoli, Fiorentino;Frank, Claudio
根据法规（EC）N。根据欧洲议会和理事会第141/2000号决议，罕见病是危及生命或使人长期衰弱的疾病，在欧洲共同体，每10 000人中受影响的人数不超过5人。据估计，6000至8000种不同的罕见疾病影响了欧盟总人口的6%。因此，如果单独考虑，这些情况可以被认为是罕见的，但当作为一个单一的群体考虑时，它们会影响很大一部分欧洲人口。在国际、欧洲和国家一级采取了若干举措，以解决与这些疾病的预防、诊断、治疗和监测有关的公共卫生和研究问题。用于诊断和治疗的创新和有效的医疗产品的开发经常受到几个因素的阻碍，包括对其自然史的有限了解，由于受特定疾病影响的患者数量有限而难以开展临床研究，由于市场机会有限而赞助商的兴趣薄弱。因此，包括欧盟在内的世界许多地区都采取了激励措施和其他便利措施，以促进罕见病诊断工具和治疗方法的开发和商业化。本文主要阐述了欧洲的举措，并将讨论孤儿药的问题和有争议的方面。最后，介绍了意大利采取的活动和措施。
According to the Regulation (EC) N. 141/2000 of the European Parliament and of the Council, rare diseases are life-threatening or chronically debilitating conditions, affecting no more than 5 in 10 000 persons in the European Community. It is estimated that between 6000 to 8000 distinct rare diseases affect up to 6% of the total EU population. Therefore, these conditions can be considered rare if taken individually but they affect a significant proportion of the European population when considered as a single group. Several initiatives have been undertaken at international, European and national level to tackle public health as well as research issues related to the prevention, diagnosis, treatment and surveillance of these diseases. The development of innovative and effective medical products for their diagnosis and treatment is frequently hampered by several factors, including the limited knowledge of their natural history, the difficulties in setting up clinical studies due to the limited numbers of patients affected by a specific disease, the weak interest of sponsors due to the restricted market opportunities. Therefore, incentives and other facilitations have been adopted in many parts of the world, including in the EU, in order to facilitate the development and commercialization of diagnostic tools and treatments devoted to rare diseases. This paper illustrates mainly the European initiatives and will discuss the problematic and controversial aspects surrounding orphan drugs. Finally, activities and measures adopted in Italy are presented.