目的:在为罕见疾病的健康技术评估获得临床和经济证据时,存在重大挑战。其中许多在以前的系统审查中得到了强调,但没有得到全面的总结。对于所有从事罕见疾病工作的利益相关者来说,意识和理解这些问题很重要。这篇综述的目的是确定罕见疾病中孤儿药经济学评估的主要挑战。
方法:对有关孤儿和超孤儿药的经济学研究进行了系统综述。不是系统评价的研究,或者先进的治疗药物,不被视为孤儿药的个性化药物或其他干预措施被排除。数据库搜索包括2010年至2023年的出版物,并在MEDLINE进行,EMBASE和Cochrane图书馆使用过滤器进行系统评价,以及经济评价和模型。这些过滤器与罕见疾病和孤儿药的搜索词结合在一起。手工搜索补充了文献检索。研究结果由合规的系统评价和荟萃分析(PRISMA)流程图的首选报告项目报告。
结果:从文献检索中确定了二百八十二条记录,其中64个是重复的,而从手工搜索中发现了5条评论。在根据纳入/排除标准进行筛查后,共纳入了36项审查,35个来自文献检索,一个来自手工检索。在这些研究中,1、27和8是低的,中等和高质量,分别。评论强调了卫生经济参数的证据匮乏,例如,临床有效性,成本,生活质量和疾病的自然史。诸如成本效益和预算影响分析之类的卫生经济评估很少,一般低到中等质量。原因是有限的卫生经济参数,加上出版物偏见,特别是成本效益分析。
结论:结果强调了有关经济评估的证据相当缺乏和成本效益分析很少的问题,支持这样的观点,即缺乏证据使得对罕见疾病的经济评估与更普遍的疾病相比更具挑战性。此外,我们为在罕见疾病的经济评估中采用更可持续的方法提供建议.
OBJECTIVE: There are significant challenges when obtaining clinical and economic evidence for health technology assessments of rare diseases. Many of them have been highlighted in previous systematic reviews but they have not been summarised in a comprehensive manner. For all stakeholders working with rare diseases, it is important to be aware and understand these issues. The objective of this review is to identify the main challenges for the economic evaluation of orphan drugs in rare diseases.
METHODS: An umbrella review of systematic reviews of economic studies concerned with orphan and ultra-orphan drugs was conducted. Studies that were not systematic reviews, or on advanced therapeutic medicinal products, personalised medicines or other interventions that were not considered orphan drugs were excluded. The database searches included publications from 2010 to 2023, and were conducted in MEDLINE, EMBASE and the Cochrane library using filters for systematic reviews, and economic evaluations and models. These filters were combined with search terms for rare diseases and orphan drugs. A hand search supplemented the literature searches. The findings were reported by a compliant Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) flow diagram.
RESULTS: Two hundred and eighty-two records were identified from the literature searches, of which 64 were duplicates, whereas five reviews were identified from the hand search. A total of 36 reviews were included after screening against inclusion/exclusion criteria, 35 from literature searches and one from hand searching. Of those studies 1, 27 and 8 were low, moderate and high quality, respectively. The reviews highlight the scarcity of evidence for health economic parameters, for example, clinical effectiveness, costs, quality of life and the natural history of disease. Health economic evaluations such as cost-effectiveness and budget-impact analyses were scarce, and generally low-to-moderate quality. The causes were limited health economic parameters, together with publications bias, especially for cost-effectiveness analyses.
CONCLUSIONS: The results highlighted issues around a considerable paucity of evidence for economic evaluations and few cost-effectiveness analyses, supporting the notion that a paucity of evidence makes economic evaluations of rare diseases more challenging compared with more prevalent diseases. Furthermore, we provide recommendations for more sustainable approaches in economic evaluations of rare diseases.