全球对罕见病和孤儿药物定义的洞察力:一个系统的文献审查
Ghada Mohammed Abozaid1,2, Katie Kerr3, Hiba Alomary4
1Centre for Public Health, Institute of Clinical Sciences B, Royal Victoria Hospital, Queen's University Belfast School of Medicine, Dentistry and Biomedical Sciences, Belfast, UK gabozaid01@qub.ac.uk.
BMJ open
|January 25, 2025
概括
罕见疾病 (RD) 和孤儿药物 (OD) 的全球定义缺乏一致性. 需要具体的国家标准来改善医疗保健的公平性,获得治疗和罕见病患者的治疗结果.
科学领域:
- 医学科学 医学科学 医学科学
- 公共卫生 公共卫生
- 药理学 药理学是指药理学的学科.
背景情况:
- 罕见疾病 (RD),超罕见疾病 (URD),孤儿药物 (OD) 和超孤儿药物 (UOD) 的定义和分类在全球范围内有所不同.
- 了解这些定义对于研究,医疗保健政策和患者获得治疗至关重要.
- 现有的定义通常依赖于基于流行率的标准,这可能是有问题的,因为各国的疾病频率不同.
研究的目的:
- 系统地审查和分析RD,URD,OD和UOD的全球定义,分类和标准.
- 为了解这些不同定义背后的逻辑提供见解.
- 突出与当前定义框架相关的挑战.
主要方法:
- 使用主要的科学数据库 (PubMed/Medline,Embase,Scopus,Web of Science) 进行了系统的文献审查.
- 搜索涵盖了1985年至2021年出版的文章,包括关于普通人类人口的英语研究.
- 数据的提取和合成涉及叙事合成,内容分析和两个独立审稿人的描述性分析,使用JBI批判性评估工具进行质量评估.
主要成果:
- 在2712个已识别的物品中,有93个符合列入标准,产生了209个不同的定义.
- 关于罕见疾病 (119),超罕见疾病 (11),孤儿药物 (67) 和超孤儿药物 (12) 的定义.
- 定义显示出显著的差异,依赖于基于流行率和其他上下文标准.
结论:
- 仅基于患病率的标准是不够的,因为疾病频率的国际差异.
- 建立国家特定的定义对于增强理解,国家间评估和提高医疗保健效率至关重要.
- 统一的定义将加强公平性,促进对ODs的获取,并促进对罕见疾病的研究和开发.
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