Sparking Advancements in Genomic Medicine

激发基因组医学的进步

• 批准号: 10553452
• 负责人: Larisa Humma Cavallari
• 金额: $ 62.33万
• 依托单位: UNIVERSITY OF FLORIDA
• 依托单位国家: 美国
• 财政年份: 2022
• 资助国家: 美国
• 起止时间: 2022-02-01 至 2023-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10553452
• 关键词: APOL1 gene; Administrative Supplement; African American population; African ancestry; Age-Years; Alabama; Blood Pressure; Chronic Kidney Failure; Clinical; Clinical Trials; Enrollment; Ensure; Florida; Genetic Risk; Genomic medicine; Genotype; Hypertension; Kidney Diseases; Kidney Failure; Knowledge; Participant; Persons; Pilot Projects; Prevalence; Randomized; Research; Sample Size; Site; Testing; Universities; disease disparity; genetic testing; high risk; improved; member; pharmacogenetic testing; power analysis; primary outcome; prospective; recruit; risk variant

Project Summary As part of the IGNITE II network, the Genetic testing to Understand Renal Disease Disparities in the U.S. (GUARDD-US) clinical trial has been underway since July 2019. GUARDD-US is a prospective randomized pragmatic genotype-guided clinical trial aimed at determining the effect of early vs. delayed knowledge of a positive APOL1 genotyping result on 3- month systolic blood pressure (SBP). African Americans between 18 and 70 years of age with hypertension, with or without chronic kidney disease (CKD) are recruited and randomized to immediate versus delayed return of APOL1 genetic testing. In those who are APOL1 negative, a pilot study to test the impact of pharmacogenetic (PGx) testing on SBP is also underway. The current administrative supplement request reflects a planned increase in enrollment for the GUARDD-US trial. Because the observed prevalence the actionable APOL1 high-risk genotype is significantly lower than projected in the initial sample size calculations (current 14.6% versus 17%), an increase in sample size from 5,435 to 6,600 is required to ensure adequate power for analysis of the primary outcome. In addition, some sites have been unable to meet their recruitment targets, and it is not anticipated that they will make up the shortfall expeditiously. The University of Florida (UF) Clinical Group will support the GUARDD-US increased enrollment request by increasing its enrollment target by 40% (to 700 from 500 participants) and has agreed to add the University of Alabama at Birmingham as a member of its Clinical Group to enroll an additional 300 research participants into the trial.

项目摘要 作为IGNITE II网络的一部分，基因检测了解美国肾脏疾病差异（GUARDD-US） 临床试验自2019年7月开始。GUARDD-US是一种前瞻性随机实用基因型指导的 一项临床试验，旨在确定早期与延迟知晓阳性APOL 1基因分型结果对3- 月收缩压（SBP）。18 - 70岁的非裔美国人，有或无高血压 招募慢性肾病（CKD）患者，并随机分为立即和延迟返回APOL 1基因检测组。 在APOL 1阴性的患者中，还进行了一项初步研究，以测试药物遗传学（PGx）检测对SBP的影响。 正在进行中当前的行政补充请求反映了GUARDD-US计划增加的入学人数 审判因为观察到的患病率，可采取行动的APOL 1高风险基因型显着低于预测， 初始样本量计算（当前为14.6% vs 17%），需要将样本量从5，435增加到6，600， 确保有足够的能力来分析主要结果。此外，一些网站无法满足其 征聘目标尚未达到，预计无法迅速弥补短缺。佛罗里达大学 (UF)临床组将通过将入组目标增加 40%（从500名参与者增加到700名），并同意将亚拉巴马大学伯明翰分校作为其成员。 临床组招募额外的300名研究参与者参加试验。