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NCT Number: NCT04528303

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

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.

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Key information

Conditions

Diarrhea, Infantile Diarrhea Digestive System Diseases Enteropathy Gastrointestinal Diseases Intestinal Diseases Pathological Conditions, Signs and Symptoms Signs and Symptoms Signs and Symptoms, Digestive

Age range

Up to 6 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Ying Huang

Shanghai, Shanghai Municipality, 201102, China

Location status: Recruiting

Location contact

Ying Huang

CONTACT

[email protected]

02164931727

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Whole Genome Sequencing

Genetic

Genomic sequencing and molecular diagnostic results

Whole Exome Sequencing

Genetic

Genomic sequencing and molecular diagnostic results

Primary outcomes

  1. 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.

Secondary outcomes

  1. 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.

  2. Mortality of patients

    Time frame: Within approximately 1 year of enrollment

    Mortality of patients after WGS and WES

  3. 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

  4. 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

Study contacts

Contact information is provided by the study sponsor or research team.

Lin Wang, MD,PhD

CONTACT

[email protected]

13817510412

Ying Huang, MD, PhD

CONTACT

[email protected]

+862164931727

Sponsors and collaborators

Lead sponsor

Children's Hospital of Fudan University

Other

Registry information

Official study title

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

Important dates

Study start
2024
Primary completion
2026
Study completion
2026
First posted
Aug 27, 2020
Registry last updated
Mar 24, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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