A Randomized, Controlled Trial of the Effectiveness of Whole Genome Sequencing Versus Whole Exome Sequencing for Screening Patients With Congenital Diarrhea and Enteropathy (CODESeq)

Children's Hospital of Fudan University1 个研究点分布在 1 个国家目标入组 180 人2024年5月1日

适应症Diarrhea, Infantile Enteropathy

概览

阶段: 不适用
干预措施: 未指定
疾病 / 适应症: Diarrhea, Infantile
发起方: Children's Hospital of Fudan University
入组人数: 180
试验地点: 1
主要终点: Diagnostic rates between WGS and WES
状态: 招募中
最后更新: 上个月

概览研究者入排标准结局指标研究点相似试验

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.

注册库

clinicaltrials.gov

开始日期

2024年5月1日

结束日期

2026年12月31日

最后更新

上个月

研究类型

Interventional

研究设计

Parallel

性别

All

研究者

发起方

Children's Hospital of Fudan University

责任方

Sponsor

入排标准

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)