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

NCT04528303 · tracked via the Priya Life Science China tracker

Sponsor

Children's Hospital of Fudan University

Phase

Not applicable

Started

2024-05-01

Last updated

2026-03-24

Condition(s) studied

Diarrhea, InfantileEnteropathy

Investigational drug(s) / intervention(s)

Whole genome sequencingWhole exome sequencing

Whole genome sequencing: Genomic sequencing and molecular diagnostic results

Whole exome sequencing: Genomic sequencing and molecular diagnostic results

Study 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.

Eligibility

Sex

ALL

Min age

—

Max age

6 Years

Healthy volunteers

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

Primary outcome measure(s)

Diagnostic rates between WGS and WES — Within approximately 60 days of enrollment
Diagnostic rate of genome and exome based on rate of clinically confirmed diagnoses.

Trial sites (1)

Facility	City	Region	Status
Ying Huang	Shanghai	Shanghai Municipality	Recruiting

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Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT04528303 on ClinicalTrials.gov ↗ ← All trials in China