NCT04528303

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

A Randomized, Controlled Trial of the Effectiveness of Whole Genome Sequencing Versus Whole Exome Sequencing for Screening Patients With Congenital Diarrhea and Enteropathy (CODESeq)

• Status: Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 180 (estimated)
• Sponsor: Children's Hospital of Fudan University · Academic / Other
• Sex: All
• Age: 6 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Diarrhea, Infantile
• Enteropathy

Interventions

Type	Name	Description
GENETIC	Whole genome sequencing	Genomic sequencing and molecular diagnostic results
GENETIC	Whole exome sequencing	Genomic sequencing and molecular diagnostic results

Timeline

• Start date: 2024-05-01
• Primary completion: 2026-12-31
• Completion: 2026-12-31
• First posted: 2020-08-27
• Last updated: 2026-03-24

Locations

1 site across 1 country: China