RecruitingNot Applicable

Whole Genome Sequencing Versus Whole Exome Sequencing for Congenital Diarrhea and Enteropahty

China180 participantsStarted 2024-05-01

Plain-language summary

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.

Who can participate

Age range

6 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: * 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. Exclusion Criteria: * 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

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Diagnostic rates between WGS and WES

Timeframe: Within approximately 60 days of enrollment

Trial details

NCT IDNCT04528303

SponsorChildren's Hospital of Fudan University

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2026-12-31

Contact for this trial

Ying Huang, MD, PhD

+862164931727 yhuang815@163.com

View on ClinicalTrials.gov More Diarrhea, Infantile trials