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

Recruiting now · Not applicable

Conditions studied: Diarrhea, Infantile, Enteropathy

In brief

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.

Key facts

Study ID

NCT04528303

Run by

Children's Hospital of Fudan University

People needed

180

Starts

2024-05-01

Expected to finish

2026-12-31

Last updated by the study team

2026-03-24

Who can join

Age: any, up to 6. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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.

You may not qualify if…

• 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

Where it is running

• Ying Huang — Shanghai, Shanghai Municipality, China (enrolling)

Full record on ClinicalTrials.gov

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