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

Qualifiers

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

Treatments tested in this trial

  • Whole genome sequencing
  • Whole exome sequencing

Treatment groups

180 Participants
are divided into 2 treatment groups