Research Centre on Health and Social Care Management (CERGAS), Bocconi University, Via Roentgen 1, 20136Milan, Italy.
Centre for Health Economics, University of York, YorkYO10 5DD, UK.
Int J Technol Assess Health Care. 2021 May 28;37(1):e65. doi: 10.1017/S0266462321000337.
Conventional appraisal and reimbursement processes are being challenged by the increasing number of rare disease treatments (RDTs) with a small evidence base and often a high price. Processes to appraise RDTs vary across countries; some use standard processes, others have separate processes or adapted processes that explicitly deal with rare disease specificities. The objective of this study was to examine the impacts of different appraisal processes for two RDTs.
A case study analysis was conducted using countries with different forms of appraisal processes for RDTs for which public health technology assessment (HTA) reports were available. Two contrasting RDTs were chosen according to the criteria: rare versus ultra-rare treatment, affecting child versus adult, life-threatening versus disabling. Information from public HTA reports for each country's RDT appraisal was extracted into templates, allowing a systematic comparison of the appraisals across countries and identification of the impact of the different processes in practice.
Reports from Belgium, England, France, Germany, Italy, Netherlands, Norway, Scotland, Sweden, and the USA were selected for nusinersen (for spinal muscular atrophy) and voretigene neparvovec (for inherited retinal disorders). Countries with separate or adapted processes had more consistent approaches for managing RDT-related issues during appraisal, such as stakeholder involvement and criteria to address the specificities of RDTs, creating more transparency in decision-making.
Findings suggest that separate or adapted approaches for RDT appraisal may facilitate more structured, consistent decision-making and better management of RDT specificities.
越来越多的罕见病治疗方法（RDTs）证据基础较少，且价格通常较高，这对常规评估和报销流程提出了挑战。各国的 RDT 评估流程各不相同；有些采用标准流程，有些则有单独的流程或经过调整的流程，专门针对罕见病的特点。本研究旨在考察两种 RDT 不同评估流程的影响。
采用案例研究分析，选择了 RDT 评估采用不同形式的国家，这些国家有公开的卫生技术评估（HTA）报告。根据以下标准选择了两种截然不同的 RDT：罕见病与超罕见病治疗、儿童用药与成人用药、危及生命与致残。从每个国家 RDT 评估的公开 HTA 报告中提取信息到模板中，允许在国家之间系统比较评估，并确定不同流程在实践中的影响。
选择了比利时、英格兰、法国、德国、意大利、荷兰、挪威、苏格兰、瑞典和美国的报告，用于评估 nusinersen（用于脊髓性肌萎缩症）和 voretigene neparvovec（用于遗传性视网膜疾病）。采用单独或调整后的流程的国家在评估过程中对于管理 RDT 相关问题具有更一致的方法，例如利益相关者的参与和解决 RDT 特殊性的标准，从而使决策更加透明。
研究结果表明，RDT 评估的单独或调整后的方法可能有助于更具结构性、一致性的决策制定，并更好地管理 RDT 的特殊性。
