Whole Genome Sequencing Versus Whole Exome Sequencing for Congenital Diarrhea and Enteropahty
Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
AgeUp to 6
SponsorChildren's Hospital of Fudan University
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
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.
Disqualifiers
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
Trial design
Design model
Parallel
Treatments tested in this trial
Whole genome sequencing
GeneticGenomic sequencing and molecular diagnostic results
Whole exome sequencing
GeneticGenomic sequencing and molecular diagnostic results
Treatment groups
180 Participants
are divided into 2 treatment groupsGroup A: Whole genome sequencingExperimental treatment 1 intervention
Group B: Whole exome sequencingActive comparator 1 intervention
Trial outcomes
Primary outcomes
1
Diagnostic rates between WGS and WES
Diagnostic rate of genome and exome based on rate of clinically confirmed diagnoses.
Time frame
Within approximately 60 days of enrollmentSecondary outcomes
1
Number of patients receiving precision medicine guided by sequencing results
Rate of application of precision medicine suggested by the results of WGS or WES.
Time frame
Within approximately 60 days of enrollment2
Mortality of patients
Mortality of patients after WGS and WES
Time frame
Within approximately 1 year of enrollment3
Rate of parental satisfaction with sequencing
Parental satisfaction with decision to pursue sequencing based on questionnaire survey
Time frame
Within one week of patient enrollment4
Number of parents who are available for trio sequencing
Number of subjects in which both parents are available for trio sequencing
Time frame
Within one week of patient enrollmentSponsors and contacts
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Source ClinicalTrials.gov