Comparing whole genome sequencing and whole exome sequencing for congenital diarrhea
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 is testing if whole genome sequencing can help doctors better diagnose and treat patients with congenital diarrhea compared to whole exome sequencing.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 180 (estimated) |
| Ages | N/A to 6 Years |
| Sex | All |
| Sponsor | Children's Hospital of Fudan University Academic / other |
| Locations | 1 site (Shanghai, Shanghai Municipality) |
| Trial ID | NCT04528303 on ClinicalTrials.gov |
What this trial studies
This study aims to determine whether whole genome sequencing (WGS) can improve diagnostic rates and outcomes for patients with congenital diarrhea and enteropathy (CODE) compared to whole exome sequencing (WES). A total of 180 patients will be enrolled in a randomized controlled trial, where they will receive either WGS or WES. The goal is to evaluate the potential benefits of WGS in guiding precision medicine for these patients.
Who should consider this trial
Good fit: Ideal candidates include patients with chronic diarrhea lasting more than 2 months and who have consent from their parents or legal guardians.
Not a fit: Patients with chronic diarrhea caused by specific infections or those with previously confirmed monogenic diarrhea may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnosis and treatment options for patients suffering from congenital diarrhea and enteropathy.
How similar studies have performed: Other studies have shown promising results with whole genome sequencing in various genetic conditions, suggesting potential success for this approach in congenital diarrhea.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Shanghai, Shanghai Municipality
- Ying Huang — Shanghai, Shanghai Municipality, China (Recruiting)
Study contacts
- Principal investigator: Ying Huang, MD,PhD — Children's Hospital of Fudan University
- Study coordinator: Ying Huang, MD, PhD
- Email: yhuang815@163.com
- Phone: +862164931727
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.