Whole Genome Sequencing Versus Whole Exome Sequencing for... | NCT04528303

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

NCT04528303

Sponsor

Children's Hospital of Fudan University

Status

Recruiting

Last Update Posted

Mar 24, 2026Actual

Enrollment

180Estimated

Phase

Not Applicable

Conditions

Diarrhea, Infantile
Enteropathy

Interventions

Whole genome sequencing
Whole exome sequencing

Countries

China

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Mar 2026

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

May 1, 2024Actual

Primary Completion Date

Dec 31, 2026Estimated

Completion Date

Dec 31, 2026Estimated

First Submitted Date

Aug 24, 2020

First Submission Date that Met QC Criteria

Aug 24, 2020

First Posted Date

Aug 27, 2020Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Mar 20, 2026

Last Update Posted Date

Mar 24, 2026Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Not provided

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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 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

Not provided

Design Module

Study Type

Interventional

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not Applicable

Interventional Study Design

Allocation

Biospecimen

No data available

No data is available for this block.

Enrollment

180Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Whole genome sequencing	Experimental		Genetic: Whole genome sequencing
Whole exome sequencing	Active Comparator		Genetic: Whole exome sequencing

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Whole genome sequencing	Genetic	Genomic sequencing and molecular diagnostic results	Whole genome sequencing

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Diagnostic rates between WGS and WES	Diagnostic rate of genome and exome based on rate of clinically confirmed diagnoses.	Within approximately 60 days of enrollment

Secondary Outcomes

Measure	Description	Time Frame
Number of patients receiving precision medicine guided by sequencing results	Rate of application of precision medicine suggested by the results of WGS or WES.	Within approximately 60 days of enrollment
Mortality of patients

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

6 Years

Standard Ages

Child

Study Population

Not provided

Sampling Method

Not provided

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Ying Huang, MD, PhD	Contact	+862164931727		yhuang815@163.com
Lin Wang, MD,PhD	Contact	13817510412		wanglin546974055@163.com

Overall Officials

Name	Affiliation	Role
Ying Huang, MD,PhD	Children's Hospital of Fudan University	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Ying Huang	Recruiting	Shanghai	Shanghai Municipality	201102	China

IPD Sharing Statement Module

Plan to Share IPD

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D003968	Diarrhea, Infantile
D007410	Intestinal Diseases

Ancestor Terms

ID	Term
D003967	Diarrhea
D012817	Signs and Symptoms, Digestive
D012816	Signs and Symptoms
D013568	Pathological Conditions, Signs and Symptoms

Browse Leaves

Not provided

Browse Branches

Not provided

Intervention Browse Module

MeSH Terms

ID	Term
D000073336	Whole Genome Sequencing
D000073359	Exome Sequencing

Ancestor Terms

ID	Term
D017422	Sequence Analysis, DNA
D017421	Sequence Analysis
D005821	Genetic Techniques
D008919	Investigative Techniques

Browse Leaves

Not provided

Browse Branches

Not provided