Berry Diane, Hickey Carolyn, Kahlman Lisa, Long James, Markus Christina, McCombs Caitlin K
Sarepta Therapeutics, Inc., Cambridge, MA, USA.
Government Affairs and Policy, Sarepta Therapeutics, Inc., Cambridge, MA, USA.
Mol Ther Methods Clin Dev. 2025 Jan 17;33(1):101403. doi: 10.1016/j.omtm.2024.101403. eCollection 2025 Mar 13.
The rapid transformation in rare disease treatment, driven by advances in genetic medicine and diagnostics, underscores the urgent need for access to these innovative therapies. With over 10,000 identified rare diseases globally, 80% of which are genetic, the current therapeutic landscape indicates that only 5% of these conditions have FDA-approved treatments. This article examines the critical logistical challenges in commercializing and paying for gene therapies for rare diseases. It highlights the importance of considering innovative payment models, addressing patient portability issues, and aligning payer coverage policies with FDA-approved indications. It emphasizes the need to account for the broader value of gene therapies, incorporate input from disease-specific clinical experts in payer coverage decisions, and reduce administrative barriers to coverage. By adopting a multifaceted approach, we can foster a more supportive environment for the sustainable delivery of gene therapies, significantly improving the lives of patients with rare genetic disorders while rewarding and driving continued innovation.
在基因医学和诊断技术进步的推动下，罕见病治疗领域迅速变革，这凸显了获取这些创新疗法的迫切需求。全球已确认的罕见病超过10000种，其中80%是遗传性的，目前的治疗情况表明，这些疾病中只有5%有美国食品药品监督管理局（FDA）批准的治疗方法。本文探讨了罕见病基因疗法商业化和支付方面的关键后勤挑战。它强调了考虑创新支付模式、解决患者可携带性问题以及使支付方覆盖政策与FDA批准的适应症保持一致的重要性。它强调需要考虑基因疗法更广泛的价值，在支付方覆盖决策中纳入特定疾病临床专家的意见，并减少覆盖的行政障碍。通过采取多方面的方法，我们可以营造一个更有利于基因疗法可持续提供的支持性环境，显著改善罕见遗传病患者的生活，同时奖励并推动持续创新。
