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

Diarrhea, Infantile Clinical Trial

Official 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)

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04528303
• Other study ID #: WGS_CODE_01
• Status: Recruiting
• Phase: N/A
• Start date: May 1, 2024
• Est. completion date: December 2025

Study information

• Verified date: May 2024
• Source: Children's Hospital of Fudan University
• Contact: Ying Huang, MD, PhD
• Phone: +862164931727
• Email: yhuang815[@]163.com
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 180
• Est. completion date: December 2025
• Est. primary completion date: October 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A to 6 Years

Eligibility

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

Related Conditions & MeSH terms

• Diarrhea
• Diarrhea, Infantile
• Enteropathy
• Intestinal Diseases

Intervention

Genetic:
• Whole genome sequencing
Genomic sequencing and molecular diagnostic results
• Whole exome sequencing
Genomic sequencing and molecular diagnostic results

Locations

Country	Name	City	State
China	Ying Huang	Shanghai	Shanghai

Sponsors (1)

Lead Sponsor	Collaborator
Children's Hospital of Fudan University

Country where clinical trial is conducted

China, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Diagnostic rates between WGS and WES	Diagnostic rate of genome and exome based on rate of clinically confirmed diagnoses.	Within approximately 60 days of enrollment
Secondary	Number of patients receiving precision medicine guided by sequencing results	Rate of application of precision medicine suggested by the results of WGS or WES.	Within approximately 60 days of enrollment
Secondary	Mortality of patients	Mortality of patients after WGS and WES	Within approximately 1 year of enrollment
Secondary	Rate of parental satisfaction with sequencing	Parental satisfaction with decision to pursue sequencing based on questionnaire survey	Within one week of patient enrollment
Secondary	Number of parents who are available for trio sequencing	Number of subjects in which both parents are available for trio sequencing	Within one week of patient enrollment