Diarrhea, InfantileNCT04528303
Whole Genome Sequencing Versus Whole Exome Sequencing for Congenital Diarrhea and Enteropahty
A study testing Whole genome sequencing and Whole exome sequencing in people with Diarrhea, Infantile and Enteropathy, run by Children's Hospital of Fudan University at 1 site in China.
Trial 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). Read more about this study
- Who is it for?
- Ages Up to 6 years
- Conditions the study is for
- Diarrhea, Infantile, Enteropathy
- What is being tested?
- Whole genome sequencing and Whole exome sequencing
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 180 participants
- Where
- 1 siteChina
- Study dates
- 1 May 2024to 31 Dec 2026
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 6 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- 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.
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
China1 site, 1 recruiting
- Recruiting
Ying Huang
Shanghai, Shanghai Municipality, 201102
Ying Huang, 02164931727, yhuang815@163.com
About this study
Official title: A Randomized, Controlled Trial of the Effectiveness of Whole Genome Sequencing Versus Whole Exome Sequencing for Screening Patients With Congenital Diarrhea and Enteropathy (CODESeq)
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
- Being tested
- Whole genome sequencing, Whole exome sequencing
- Medical subject headings
- Diarrhea, Infantile, Intestinal Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Whole genome sequencingGenetic
Genomic sequencing and molecular diagnostic results
Whole exome sequencingGenetic
Genomic sequencing and molecular diagnostic results
| Study group | Role | What they receive |
|---|---|---|
| Whole genome sequencing | Experimental | Not described Receives: Genetic: Whole genome sequencing |
| Whole exome sequencing | Active comparator | Not described Receives: Genetic: Whole exome sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Diagnostic rates between WGS and WES
Diagnostic rate of genome and exome based on rate of clinically confirmed diagnoses.
Measured: Within approximately 60 days of enrollment
Secondary outcomes (4)
Number of patients receiving precision medicine guided by sequencing results
Rate of application of precision medicine suggested by the results of WGS or WES.
Measured: Within approximately 60 days of enrollment
Mortality of patients
Mortality of patients after WGS and WES
Measured: Within approximately 1 year of enrollment
Rate of parental satisfaction with sequencing
Parental satisfaction with decision to pursue sequencing based on questionnaire survey
Measured: Within one week of patient enrollment
Number of parents who are available for trio sequencing
Number of subjects in which both parents are available for trio sequencing
Measured: Within one week of patient enrollment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Aug 2020
- Study start1 May 2024
- Primary completion31 Dec 2026 (estimated)
- Study completion31 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Diarrhea, InfantileStudies of the same condition, open and under way.
- More trials run by Children's Hospital of Fudan UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Double blind
- Who is masked
- Participant, Outcomes assessor
- Enrolment
- 180 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Children's Hospital of Fudan University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Ying Huang, MD,PhD, Principal investigator, Children's Hospital of Fudan University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04528303
- Sponsor's protocol ID
- WGS_CODE_01
- Status last verified
- Mar 2026
- First submitted
- 24 Aug 2020
- Last updated
- 24 Mar 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 24 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Randomized, Controlled Trial of the Effectiveness of Whole Genome Sequencing Versus Whole Exome Sequencing for Screening Patients With Congenital Diarrhea and Enteropathy (CODESeq)
- ClinicalTrials.gov ID
- NCT04528303
- Acronym / sponsor ID
- WGS_CODE_01
- Conditions
- Diarrhea, Infantile, Enteropathy
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 180 participants (estimated)
- Lead sponsor
- Children's Hospital of Fudan UniversityUniversity, hospital or other
- Study start
- 1 May 2024 (actual)
- Primary completion
- 31 Dec 2026 (estimated)
- Study completion
- 31 Dec 2026 (estimated)
- First posted
- 27 Aug 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Double blind (participant, outcomes assessor)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Whole genome sequencing | Experimental | Genetic: Whole genome sequencing |
| Whole exome sequencing | Active comparator | Genetic: Whole exome sequencing |
Who may qualify
- Ages
- Up to 6 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (5 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Whole genome sequencingGenomic sequencing and molecular diagnostic results | Genetic | Whole genome sequencing |
| Whole exome sequencingGenomic sequencing and molecular diagnostic results | Genetic | Whole exome sequencing |
Primary outcome
Diagnostic rates between WGS and WES
Time frame: Within approximately 60 days of enrollment
Diagnostic rate of genome and exome based on rate of clinically confirmed diagnoses.
4 secondary outcomes
Number of patients receiving precision medicine guided by sequencing results
Time frame: Within approximately 60 days of enrollment
Mortality of patients
Time frame: Within approximately 1 year of enrollment
Rate of parental satisfaction with sequencing
Time frame: Within one week of patient enrollment
Number of parents who are available for trio sequencing
Time frame: Within one week of patient enrollment
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Mar 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Ying Huang, MD,PhD principal investigator
Children's Hospital of Fudan University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Whole genome sequencing and Whole exome sequencing in people with Diarrhea, Infantile and Enteropathy, run by Children's Hospital of Fudan University at 1 site in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 24 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Ying Huang, MD, PhD (+862164931727, yhuang815@163.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Diagnostic rates between WGS and WES (time frame: Within approximately 60 days of enrollment). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Mar 2026.