Berry Diane, Donigan Kate, Kahlman Lisa, Long James, Markus Christina, McCombs Caitlin K
Chief Global Policy & Advocacy Officer, Sarepta Therapeutics, Inc., Cambridge, MA, USA.
Science and Regulatory Policy, Sarepta Therapeutics, Inc., Cambridge, MA, USA.
Mol Ther Methods Clin Dev. 2024 Dec 5;32(4):101386. doi: 10.1016/j.omtm.2024.101386. eCollection 2024 Dec 12.
The advent of genetic medicines and advanced diagnostics has revolutionized the treatment landscape for rare diseases and, with over 10,000 identified conditions affecting millions globally, has the potential to improve many lives. Despite this progress, only 5% of rare diseases have FDA-approved therapies, highlighting a significant unmet need. This article examines the critical need for optimizing the regulatory environment to support the development and approval of gene therapies for rare and ultrarare diseases, which often face unique challenges due to their complexity in the midst of a rapidly evolving field. Key issues discussed include the mismatch between traditional regulatory paradigms and the nature of gene therapies, the need for innovative clinical trial designs, and the importance of flexible manufacturing processes. The article proposes targeted reforms to align regulatory frameworks with the needs of patients with rare diseases and the pace of science, emphasizing the value of a holistic evidence approach, platform technologies, and iterative manufacturing evaluations. By addressing these challenges, we can accelerate the development of life-changing therapies in order to realize the opportunity to provide treatments to patients with rare genetic disorders in their lifetime.
基因药物和先进诊断技术的出现彻底改变了罕见病的治疗格局，全球有超过10000种已确定的病症影响着数百万人，这些技术有改善众多患者生活的潜力。尽管取得了这一进展，但只有5%的罕见病有美国食品药品监督管理局（FDA）批准的疗法，这凸显了巨大的未满足需求。本文探讨了优化监管环境以支持罕见病和超罕见病基因疗法的开发与批准的迫切需求，由于其在快速发展的领域中具有复杂性，这些疾病往往面临独特挑战。讨论的关键问题包括传统监管模式与基因疗法性质之间的不匹配、创新临床试验设计的必要性以及灵活制造工艺的重要性。本文提出了针对性的改革措施，以使监管框架与罕见病患者的需求和科学发展速度相匹配，强调整体证据方法、平台技术和迭代制造评估的价值。通过应对这些挑战，我们可以加速改变生活的疗法的开发，以便有机会在患者有生之年为患有罕见遗传疾病的患者提供治疗。
