Leng Ye, Tang Yu, Yu Weijie, Hou Yiru, He Hanqing, Han Yanjie, Huang Huiyao, Zhang Wenbao, Li Ning
School of Basic Medicine and Clinical Pharmacy, China Pharmaceutical University, Nanjing, 211198, China.
Clinical Trials Center, National Cancer Center/National Clinical Research Centre for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, 17 South Panjiayuan Lane, Chaoyang District, Beijing, 100021, People's Republic of China.
Ther Innov Regul Sci. 2025 Jul 14. doi: 10.1007/s43441-025-00833-8.
Due to great unmet medical needs, orphan drug development is a common issue of high priority for policymakers, industry leaders, researchers and patients worldwide. The establishment of a harmonized support system is the way forward to address the dilemma facing rare diseases (RDs). This study pioneers the proposal of a framework and dimensions of support systems affecting orphan drug development, covering legal (political and legal basis), technical (regulatory guidance and acceleration), motivational (economic incentives and innovation returns) and logistical (fundamental infrastructure) factors. This study, based on the framework, shows that the conditions for orphan drug development above are basically developed in the US, the EU and China. Additionally, China lags behind in terms of economic incentives and fundamental infrastructure. Continuous improvements in pricing and reimbursement, as well as the acceleration of real-world data (RWD) database and biobank repository integration, are expected in China. Based on these findings from the three study regions, action plans with three strategies (national plans and strategies, a patient-centered health system, global governance and collaborations) and eleven actions are suggested for strengthening synergies between initiatives and stakeholders to satisfy the medical needs of RD patients and families. This study can provide a reference not only for orphan drug development in the three study regions but also for all other countries worldwide, especially for those with a late start in addressing RDs.
由于大量未满足的医疗需求，孤儿药研发是全球政策制定者、行业领袖、研究人员和患者高度优先关注的共同问题。建立一个协调一致的支持体系是解决罕见病（RDs）所面临困境的前进方向。本研究率先提出了影响孤儿药研发的支持体系框架及维度，涵盖法律（政治和法律基础）、技术（监管指导与加速）、激励（经济激励与创新回报）和后勤（基础基础设施）因素。基于该框架的本研究表明，上述孤儿药研发条件在美国、欧盟和中国已基本具备。此外，中国在经济激励和基础基础设施方面滞后。预计中国将在定价和报销方面持续改进，以及加速真实世界数据（RWD）数据库和生物样本库整合。基于这三个研究地区的这些发现，建议采取包含三项策略（国家计划与战略、以患者为中心的卫生系统、全球治理与合作）和十一项行动的行动计划，以加强各项举措与利益相关者之间的协同作用，满足罕见病患者及其家庭的医疗需求。本研究不仅可为这三个研究地区的孤儿药研发提供参考，也可为全球所有其他国家提供参考，尤其是那些在解决罕见病问题上起步较晚的国家。
