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

Not Applicable

Recruiting

• Conditions: Diarrhea, Infantile; Enteropathy

• Registration Number: NCT04528303
• Lead Sponsor: Children's Hospital of Fudan University

Brief 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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2020-08-24
• Study First Submitted QC: 2020-08-24
• Study First Posted: 2020-08-27
• Study Start: 2024-05-01
• Status Verified: 2025-09
• Last Update Submitted: 2025-09-03
• Last Update Posted: 2025-09-05
• Primary Completion: 2025-10
• Study Completion: 2025-12-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 180

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

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Primary Outcome Measures

Name	Time	Method
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.

Secondary Outcome Measures

Name	Time	Method
Mortality of patients	Within approximately 1 year of enrollment	Mortality of patients after WGS and WES
Rate of parental satisfaction with sequencing	Within one week of patient enrollment	Parental satisfaction with decision to pursue sequencing based on questionnaire survey
Number of patients receiving precision medicine guided by sequencing results	Within approximately 60 days of enrollment	Rate of application of precision medicine suggested by the results of WGS or WES.
Number of parents who are available for trio sequencing	Within one week of patient enrollment	Number of subjects in which both parents are available for trio sequencing

Trial Locations

Locations (1)

Ying Huang; 🇨🇳 Shanghai, Shanghai Municipality, China