Whole Genome Sequencing Versus Whole Exome Sequencing for Congenital Diarrhea and Enteropahty
A Randomized, Controlled Trial of the Effectiveness of Whole Genome Sequencing Versus Whole Exome Sequencing for Screening Patients With Congenital Diarrhea and Enteropathy (CODESeq)
1 other identifier
interventional
180
1 country
1
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for not_applicable
Started May 2024
Typical duration for not_applicable
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
August 24, 2020
CompletedFirst Posted
Study publicly available on registry
August 27, 2020
CompletedStudy Start
First participant enrolled
May 1, 2024
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 31, 2026
ExpectedStudy Completion
Last participant's last visit for all outcomes
December 31, 2026
March 24, 2026
March 1, 2026
2.7 years
August 24, 2020
March 20, 2026
Conditions
Outcome Measures
Primary Outcomes (1)
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 Outcomes (4)
Number of patients receiving precision medicine guided by sequencing results
Within approximately 60 days of enrollment
Mortality of patients
Within approximately 1 year of enrollment
Rate of parental satisfaction with sequencing
Within one week of patient enrollment
Number of parents who are available for trio sequencing
Within one week of patient enrollment
Study Arms (2)
Whole genome sequencing
EXPERIMENTALWhole exome sequencing
ACTIVE COMPARATORInterventions
Genomic sequencing and molecular diagnostic results
Genomic sequencing and molecular diagnostic results
Eligibility Criteria
You may qualify if:
- 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.
You may not qualify if:
- 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
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
Ying Huang
Shanghai, Shanghai Municipality, 201102, China
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Ying Huang, MD,PhD
Children's Hospital of Fudan University
Central Study Contacts
Study Design
- Study Type
- interventional
- Phase
- not applicable
- Allocation
- RANDOMIZED
- Masking
- DOUBLE
- Who Masked
- PARTICIPANT, OUTCOMES ASSESSOR
- Purpose
- DIAGNOSTIC
- Intervention Model
- PARALLEL
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
August 24, 2020
First Posted
August 27, 2020
Study Start
May 1, 2024
Primary Completion (Estimated)
December 31, 2026
Study Completion (Estimated)
December 31, 2026
Last Updated
March 24, 2026
Record last verified: 2026-03
Data Sharing
- IPD Sharing
- Will not share