Jonker Anneliene H, Tataru Elena-Alexandra, Dimmock David P, Bateman-House Alison, Graessner Holm, Baynam Gareth, Augustine Erika F, Jaffe Adam, Pasmooij Anna M G, Iliach Oxana, Horgan Richard, Davies James, Mitkus Shruti, Lapteva Larissa, Synofzik Matthis, Yu Timothy W, O'Connor Daniel, Aartsma-Rus Annemieke
Health Technologies and Services Department, Techmed Centre, University of Twente, Enschede, The Netherlands.
Fondation Maladies Rares, Paris, France.
Ther Adv Rare Dis. 2025 May 27;6:26330040251339204. doi: 10.1177/26330040251339204. eCollection 2025 Jan-Dec.
The field of individualized, or N-of-1, therapy development is growing and increasingly gaining attention as a novel option for people with serious diseases, caused by unique genetic variants for whom approved therapies are not available. The N-of-1 taskforce of the International Rare Disease Research Consortium previously outlined a roadmap of aspects involved in N-of-1 therapy development and implementation. Here, this follow-up paper looks forward and reflects on how to address existing gaps to advance the current state of individualized interventions toward an integrated and sustainable treatment development model. It discusses what needs to be established for N-of-1 therapies to be developed and utilized at a larger scale, which involves features like sustainability; safety; efficacy; regulatory aspects; dedicated registries and data sharing; tools; long-term treatment monitoring; partnering with patient advocates; and reimbursement models. It closes with recommendations to shape the future of individualized therapies, focusing on ethical implications, education, creation of tools, incentives for data sharing, and innovative payment models.
个体化治疗（即单病例治疗）的开发领域正在不断发展，并越来越受到关注，这是一种为患有严重疾病的人提供的新选择，这些疾病由独特的基因变异引起，而目前尚无获批的治疗方法。国际罕见病研究联盟的单病例治疗特别工作组此前概述了单病例治疗开发与实施所涉及的各个方面的路线图。在此，这篇后续论文展望并思考了如何弥补现有差距，以推动个体化干预的现状朝着综合且可持续的治疗开发模式发展。它讨论了要大规模开发和利用单病例治疗需要建立哪些要素，这涉及可持续性、安全性、有效性、监管方面、专用登记册和数据共享、工具、长期治疗监测、与患者权益倡导者合作以及报销模式等特征。论文最后提出了塑造个体化治疗未来的建议，重点关注伦理影响、教育、工具创建、数据共享激励措施以及创新支付模式。
