Comparing whole genome sequencing and whole exome sequencing for congenital diarrhea

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study aims to determine whether whole genome sequencing (WGS) can improve diagnostic rates and outcomes for patients with congenital diarrhea and enteropathy (CODE) compared to whole exome sequencing (WES). A total of 180 patients will be enrolled in a randomized controlled trial, where they will receive either WGS or WES. The goal is to evaluate the potential benefits of WGS in guiding precision medicine for these patients.

Why it matters

Who can join: the full rules

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

Where it's running

• Ying Huang
  Shanghai, Shanghai Municipality, China Recruiting

Study contacts

• Principal investigator: Ying Huang, MD,PhD — Children's Hospital of Fudan University
• Study coordinator: Ying Huang, MD, PhD
• Email: yhuang815@163.com
• Phone: +862164931727

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.