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

NCT ID: NCT04528303

Last Updated: 2025-09-05

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Clinical Phase

NA

Total Enrollment

180 participants

Study Classification

INTERVENTIONAL

Study Start Date

2024-05-01

Study Completion Date

2025-12-31

Brief Summary

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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.

Detailed Description

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Conditions

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Diarrhea, Infantile Enteropathy

Study Design

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Allocation Method

RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

DOUBLE

Participants Outcome Assessors

Study Groups

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Whole genome sequencing

Group Type EXPERIMENTAL

Whole genome sequencing

Intervention Type GENETIC

Genomic sequencing and molecular diagnostic results

Whole exome sequencing

Group Type ACTIVE_COMPARATOR

Whole exome sequencing

Intervention Type GENETIC

Genomic sequencing and molecular diagnostic results

Interventions

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Whole genome sequencing

Genomic sequencing and molecular diagnostic results

Intervention Type GENETIC

Whole exome sequencing

Genomic sequencing and molecular diagnostic results

Intervention Type GENETIC

Eligibility Criteria

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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
Maximum Eligible Age

6 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Children's Hospital of Fudan University

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Ying Huang, MD,PhD

Role: PRINCIPAL_INVESTIGATOR

Children's Hospital of Fudan University

Locations

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Ying Huang

Shanghai, Shanghai Municipality, China

Site Status RECRUITING

Countries

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China

Central Contacts

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Ying Huang, MD, PhD

Role: CONTACT

+862164931727

Lin Wang, MD,PhD

Role: CONTACT

13817510412

Facility Contacts

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Ying Huang

Role: primary

02164931727

Other Identifiers

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WGS_CODE_01

Identifier Type: -

Identifier Source: org_study_id

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