NCT04528303招募中不适用
A Randomized, Controlled Trial of the Effectiveness of Whole Genome Sequencing Versus Whole Exome Sequencing for Screening Patients With Congenital Diarrhea and Enteropathy (CODESeq)
适应症
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 180
- 试验地点
- 1
- 主要终点
- Diagnostic rates between WGS and WES
研究概览
简要总结
This study will seek to determine if whole genome sequencing (WGS) improves diagnostic rates, and outcomes for congenital diarrhea and enteropathy (CODE) patients. The investigator will enroll 180 patients in a randomized controlled study to either WGS or whole exome sequencing (WES). This study is designed to evaluate whether CODE patients would benefit from WGS guided precision medicine.
研究设计
- 研究类型
- Interventional
- 分配方式
- Randomized
- 干预模型
- Parallel
- 主要目的
- Diagnostic
- 盲法
- Double (Participant, Outcomes Assessor)
入排标准
- 年龄范围
- — 至 6 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients with chronic diarrhea lasting greater than 2 months
- •Patients with consent from parents or legal guardians
- •Biological relative of a patient enrolled in this study.
排除标准
- •Chronic diarrhea caused by specific infections, i.e. CMV, Clostridioides difficile
- •Chronic diarrhea with necrotizing enterocolitis, short bowel syndrome
- •Functional diarrhea
- •Patients with previously confirmed monogenic diarrhea
- •Patients with poor compliance
结局指标
主要结局
Diagnostic rates between WGS and WES
时间窗: Within approximately 60 days of enrollment
Diagnostic rate of genome and exome based on rate of clinically confirmed diagnoses.
次要结局
- Mortality of patients(Within approximately 1 year of enrollment)
- Rate of parental satisfaction with sequencing(Within one week of patient enrollment)
- Number of patients receiving precision medicine guided by sequencing results(Within approximately 60 days of enrollment)
- Number of parents who are available for trio sequencing(Within one week of patient enrollment)
研究者
研究点 (1)
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