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

Fudan University

Status: Enrolling

Conditions: Enteropathy; Diarrhea, Infantile

Treatments: Genetic: Whole exome sequencing; Genetic: Whole genome sequencing

Study type: Interventional

Funder types: Other

Identifiers

NCT04528303

WGS_CODE_01

Details and patient eligibility

About

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.

Enrollment: 180 estimated patients

Sex: All

Ages: Under 6 years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Diagnostic

Allocation: Randomized

Interventional model: Parallel Assignment

Masking: Double Blind

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180 participants in 2 patient groups

Whole genome sequencing

Experimental group

Treatment:

Genetic: Whole genome sequencing

Whole exome sequencing

Active Comparator group

Treatment:

Genetic: Whole exome sequencing