Back to resultsWhole Genome Sequencing Versus Whole Exome Sequencing for Congenital Diarrhea and Enteropahty
Primary Purpose
Diarrhea, Infantile, Enteropathy
Status
Not yet recruiting
Phase
Not Applicable
Locations
Study Type
Interventional
Intervention
Whole genome sequencing
Whole exome sequencing
Sponsored by
About this trial
This is an interventional diagnostic trial for Diarrhea, Infantile
Eligibility Criteria
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
Sites / Locations
Arms of the Study
Arm 1
Arm 2
Arm Type
Experimental
Active Comparator
Arm Label
Whole genome sequencing
Whole exome sequencing
Arm Description
Outcomes
Primary Outcome Measures
Diagnostic rates between WGS and WES
Diagnostic rate of genome and exome based on rate of clinically confirmed diagnoses.
Secondary Outcome Measures
Number of patients receiving precision medicine guided by sequencing results
Rate of application of precision medicine suggested by the results of WGS or WES.
Mortality of patients
Mortality of patients after WGS and WES
Rate of parental satisfaction with sequencing
Parental satisfaction with decision to pursue sequencing based on questionnaire survey
Number of parents who are available for trio sequencing
Number of subjects in which both parents are available for trio sequencing
Full Information
NCT ID
NCT04528303
First Posted
August 24, 2020
Last Updated
July 5, 2023
Sponsor
Children's Hospital of Fudan University
1. Study Identification
Unique Protocol Identification Number
NCT04528303
Brief Title
Whole Genome Sequencing Versus Whole Exome Sequencing for Congenital Diarrhea and Enteropahty
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)
Study Type
Interventional
2. Study Status
Record Verification Date
July 2023
Overall Recruitment Status
Not yet recruiting
Study Start Date
December 2023 (Anticipated)
Primary Completion Date
October 2024 (Anticipated)
Study Completion Date
December 2024 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Children's Hospital of Fudan University
4. Oversight
Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
5. Study Description
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Diarrhea, Infantile, Enteropathy
7. Study Design
Primary Purpose
Diagnostic
Study Phase
Not Applicable
Interventional Study Model
Parallel Assignment
Masking
ParticipantOutcomes Assessor
Allocation
Randomized
Enrollment
180 (Anticipated)
8. Arms, Groups, and Interventions
Arm Title
Whole genome sequencing
Arm Type
Experimental
Arm Title
Whole exome sequencing
Arm Type
Active Comparator
Intervention Type
Genetic
Intervention Name(s)
Whole genome sequencing
Intervention Description
Genomic sequencing and molecular diagnostic results
Intervention Type
Genetic
Intervention Name(s)
Whole exome sequencing
Intervention Description
Genomic sequencing and molecular diagnostic results
Primary Outcome Measure Information:
Title
Diagnostic rates between WGS and WES
Description
Diagnostic rate of genome and exome based on rate of clinically confirmed diagnoses.
Time Frame
Within approximately 60 days of enrollment
Secondary Outcome Measure Information:
Title
Number of patients receiving precision medicine guided by sequencing results
Description
Rate of application of precision medicine suggested by the results of WGS or WES.
Time Frame
Within approximately 60 days of enrollment
Title
Mortality of patients
Description
Mortality of patients after WGS and WES
Time Frame
Within approximately 1 year of enrollment
Title
Rate of parental satisfaction with sequencing
Description
Parental satisfaction with decision to pursue sequencing based on questionnaire survey
Time Frame
Within one week of patient enrollment
Title
Number of parents who are available for trio sequencing
Description
Number of subjects in which both parents are available for trio sequencing
Time Frame
Within one week of patient enrollment
10. Eligibility
Sex
All
Maximum Age & Unit of Time
6 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
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
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Ying Huang, MD, PhD
Phone
+862164931727
Email
yhuang815@163.com
First Name & Middle Initial & Last Name or Official Title & Degree
Ziqing Ye, MD
Phone
+862164931727
Email
ziqing_ye@fudan.edu.cn
12. IPD Sharing Statement
Plan to Share IPD
No
Learn more about this trial
Whole Genome Sequencing Versus Whole Exome Sequencing for Congenital Diarrhea and Enteropahty
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