METHODS: We will conduct a hybrid effectiveness-implementation type III randomized controlled trial testing the comparative effectiveness of two strategies for implementing cascade screening with 220 individuals with FH (i.e., probands) per arm identified from a large northeastern health system. The primary implementation outcome is reach, or the proportion of probands with at least one first-degree biological relative (parent, sibling, child) in the USA who is screened for FH through the study. Our secondary implementation outcomes include the number of relatives screened and the number of relatives meeting the American Heart Association criteria for FH. Our secondary clinical effectiveness outcome is post-trial proband cholesterol level. We will also use mixed methods to identify implementation strategy mechanisms for implementation strategy effectiveness while centering equity.
CONCLUSIONS: We will test two patient-facing implementation strategies harnessing insights from behavioral economics that were developed collaboratively with constituents. This trial will improve our understanding of how to implement evidence-based cascade screening for FH, which implementation strategies work, for whom, and why. Learnings from this trial can be used to equitably scale cascade screening programs for FH nationally and inform cascade screening implementation efforts for other genetic disorders.
BACKGROUND: ClinicalTrials.gov, NCT05750667. Registered 15 February 2023-retrospectively registered, https://clinicaltrials.gov/study/NCT05750667 .
方法:我们将进行一项混合有效性-实施III型随机对照试验,测试两种策略对220名FH患者实施级联筛查的比较有效性(即,先证者)从大型东北卫生系统中确定的每支手臂。主要的执行成果是达到,或具有至少一个一级生物学亲属的先证者的比例(父母,兄弟姐妹,儿童)在美国通过研究进行FH筛查。我们的次要实施结果包括筛查的亲属数量和符合美国心脏协会FH标准的亲属数量。我们的次要临床有效性结果是试验后先证者胆固醇水平。我们还将使用混合方法来确定实施战略机制,以提高实施战略的有效性,同时以公平为中心。
结论:我们将测试两种面向患者的实施策略,这些策略利用了行为经济学中与选民合作开发的见解。这项试验将提高我们对如何实施基于证据的级联筛查的理解。哪些实施策略有效,为谁,以及为什么。从该试验中获得的经验教训可用于在全国范围内公平地扩大FH的级联筛查计划,并为其他遗传疾病的级联筛查实施工作提供信息。
背景:ClinicalTrials.gov,NCT05750667。2023年2月15日注册-追溯注册,https://clinicaltrials.gov/study/NCT05750667.