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

March 20, 2026 updated by: Children's Hospital of Fudan University

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

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Estimated)

180

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • China
    • Shanghai Municipality
      • Shanghai, Shanghai Municipality, China, 201102
        • Recruiting
        • Ying Huang
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 6 years (Child)

Accepts Healthy Volunteers

No

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Diagnostic
  • Allocation: Randomized
  • Interventional Model: Parallel Assignment
  • Masking: Double

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Whole genome sequencing
Genetic: Whole genome sequencing
Genomic sequencing and molecular diagnostic results
Active Comparator: Whole exome sequencing
Genetic: Whole exome sequencing
Genomic sequencing and molecular diagnostic results

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Diagnostic rates between WGS and WES
Time Frame: Within approximately 60 days of enrollment
Diagnostic rate of genome and exome based on rate of clinically confirmed diagnoses.
Within approximately 60 days of enrollment

Secondary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Children's Hospital of Fudan University

Investigators

  • Principal Investigator: Ying Huang, MD,PhD, Children's Hospital of Fudan University

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

May 1, 2024

Primary Completion (Estimated)

December 31, 2026

Study Completion (Estimated)

December 31, 2026

Study Registration Dates

First Submitted

August 24, 2020

First Submitted That Met QC Criteria

August 24, 2020

First Posted (Actual)

August 27, 2020

Study Record Updates

Last Update Posted (Actual)

March 24, 2026

Last Update Submitted That Met QC Criteria

March 20, 2026

Last Verified

March 1, 2026

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • WGS_CODE_01

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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