Diarrhea, Infantile, Enteropathy
Conditions
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.
Interventions
GENETICWhole genome sequencing
Genomic sequencing and molecular diagnostic results
GENETICWhole exome sequencing
Genomic sequencing and molecular diagnostic results
Sponsors
Children's Hospital of Fudan University
Study design
Allocation
RANDOMIZED
Intervention model
PARALLEL
Primary purpose
DIAGNOSTIC
Masking
DOUBLE (Subject, Outcomes Assessor)
Eligibility
Sex/Gender
ALL
Age
No minimum to 6 Years
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Diagnostic rates between WGS and WES | Within approximately 60 days of enrollment | Diagnostic rate of genome and exome based on rate of clinically confirmed diagnoses. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Number of patients receiving precision medicine guided by sequencing results | Within approximately 60 days of enrollment | Rate of application of precision medicine suggested by the results of WGS or WES. |
| Mortality of patients | Within approximately 1 year of enrollment | Mortality of patients after WGS and WES |
| Rate of parental satisfaction with sequencing | Within one week of patient enrollment | Parental satisfaction with decision to pursue sequencing based on questionnaire survey |
| Number of parents who are available for trio sequencing | Within one week of patient enrollment | Number of subjects in which both parents are available for trio sequencing |
Countries
China
Contacts
CONTACTYing Huang, MD, PhD
CONTACTLin Wang, MD,PhD
PRINCIPAL_INVESTIGATORYing Huang, MD,PhD
Children's Hospital of Fudan University
Outcome results
None listed