Knoble Naomi, Murray Lindsey T
Division of Clinical Outcome Assessment, Office of Drug Evaluation Science, Office of New Drugs, Center for Drug Evaluation and Research, US Food and Drug Administration, Silver Spring, MD, USA.
Critical Path Institute, 1840 East River Road, Suite 100, Tucson, AZ 85718, USA.
Ther Adv Rare Dis. 2024 Dec 16;5:26330040241307962. doi: 10.1177/26330040241307962. eCollection 2024 Jan-Dec.
There is a significant unmet need to develop and evaluate new treatments for people living with one of approximately 8000 rare diseases. Well-known difficulties in conducting clinical trials (e.g., small samples, wide geographic distribution, heterogeneous symptoms) and developing products for these rare indications persist. Identifying outcomes in rare disease clinical trials remains a hurdle that contributes to the challenges for drug and gene therapy development due to uncertainty about what aspects of a condition to measure for safety and efficacy and often with no regulatory approval precedent. To accelerate rare disease treatments by advancing outcomes measurement, the US Food and Drug Administration (FDA) funded a cooperative agreement to establish the Rare Disease COA Consortium (RD-COAC) in 2019. The RD-COAC officially launched on January 1, 2022, with the mission to enable pre-competitive, multi-stakeholder collaboration aimed at identifying scientifically sound tools and methodologies for collecting clinically meaningful and patient-centric outcomes data in treatment trials for rare diseases. The RD-COAC has four complementary workstreams to advance COA measurement for rare disease clinical trials: (1) Rare Disease COA Resource; (2) Advancing COA Measurement Topic-Focused Working Groups; (3) Rare Disease Discussion Sessions for pre-competitive collaboration and shared learnings among RD-COAC members; and (4) Dissemination. This review provides an overview of the RD-COAC's activities to date, as well as future directions and opportunities to collaborate.
为大约8000种罕见病患者开发和评估新疗法的需求仍未得到充分满足。在进行临床试验（例如样本量小、地理分布广泛、症状异质性）以及为这些罕见适应症开发产品方面，一直存在众所周知的困难。在罕见病临床试验中确定结果仍然是一个障碍，由于对于安全性和有效性的测量应针对疾病的哪些方面存在不确定性，而且往往没有监管批准的先例，这给药物和基因疗法的开发带来了挑战。为了通过推进结果测量来加速罕见病治疗，美国食品药品监督管理局（FDA）于2019年资助了一项合作协议，以建立罕见病临床结局评估指标联盟（RD - COAC）。RD - COAC于2022年1月1日正式启动，其使命是促成竞争前的多利益相关方合作，旨在确定科学合理的工具和方法，以便在罕见病治疗试验中收集具有临床意义且以患者为中心的结果数据。RD - COAC有四个互补的工作流程来推进罕见病临床试验的临床结局评估指标测量：（1）罕见病临床结局评估指标资源；（2）推进临床结局评估指标测量主题工作组；（3）RD - COAC成员之间进行竞争前合作和共享经验的罕见病研讨会；（4）传播。本综述概述了RD - COAC迄今为止的活动，以及未来的方向和合作机会。
