Status:

RECRUITING

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

Lead Sponsor:

Children's Hospital of Fudan University

Conditions:

Diarrhea, Infantile

Enteropathy

Eligibility:

All Genders

Up to 6 years

Phase:

NA

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 pat...

Eligibility Criteria

Inclusion

  • 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

  • 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

Key Trial Info

Start Date :

May 1 2024

Trial Type :

INTERVENTIONAL

Allocation :

ESTIMATED

End Date :

December 1 2025

Estimated Enrollment :

180 Patients enrolled

Trial Details

Trial ID

NCT04528303

Start Date

May 1 2024

End Date

December 1 2025

Last Update

September 5 2025

Active Locations (1)

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1

Ying Huang

Shanghai, Shanghai Municipality, China, 201102