Phenotype and Multi-omics Analysis of Children With Congenital Diarrhea and Enteropathy in China

A Case-control Study of Phenotype and Multi-omics Analysis of Children With Congenital Diarrhea and Enteropathy in China

This study will establish a clinical cohort of children with congenital diarrhea and enteropathy (CODE), mine biomarkers of CODE through multi-omics technology and construct a clinical risk prediction model.

Study Overview

• Status: Recruiting
• Conditions: Diarrhea Infantile

Detailed Description

This study will establish a clinical cohort and a clinical phenotype database of children with congenital diarrhea and enteropathy (CODE), The investigator will mine biomarkers of CODE through multi-omics technology. This study is designed to construct a clinical risk prediction model by combining artificial intelligence technology.

• Study Type: Observational
• Enrollment (Estimated): 60

Contacts and Locations

• Study Contact: Name: Ying Huang, MD,PHD; Phone Number: +862164931727; Email: yhuang815@163.com
• Study Contact Backup: Name: Yanqiu Wang, MD; Phone Number: +862164931727; Email: 23111240040@m.fudan.edu.cn

Study Locations

• China
  • Shanghai Municipality
    • Shanghai, Shanghai Municipality, China, 201102
      • Recruiting
      • Yanqiu Wang
      • Contact: Ying Huang; Phone Number: 02164931727; Email: yhuang815@163.com

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

Patients with chronic diarrhea lasting greater than 2 months or greater than 1 month in patients younger than 2 months of age

Description

Inclusion Criteria:

• Patients with chronic diarrhea lasting greater than 2 months or greater than 1 month in patients younger than 2 months of age
• Patients with consent from parents or legal guardians

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 poor compliance

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Control; Healthy children
Case; Congenital diarrhea and enteropathy (CODE) patients

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Clinical phenotype of congenital diarrhea and enteropathy in China	Describe the clinical phenotype(Birth status, family history, clinical features of diarrhea, laboratory examination, endoscopic and histological evaluation results, growth and development indicators, previous treatment and effect were collected) of congenital diarrhea and enteropathy in China,We will use our own mobile application or to collect the relevant data, which will be filled in by the parents of the child.	Within approximately 2 years of enrollment

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Biomarkers of congenital diarrhea and enteropathy with diagnostic value through microbiome, metabolome and proteome features	Plasma and stool were collected from patients and healthy control children for multi-omics screening to identify biomarkers, of which differential expression were mined through proteome(olink), microbiome(metagenomic sequencing) and metabolome( untargeted metabolomics)，relevant statistical analyses were performed using non-parametric tests, such as the Wilcoxon signed-rank test.	Within approximately 2 years of enrollment
Cinical risk prediction model for congenital diarrhea and enteropathy built by artificial intelligence and machine learning	Using artificial intelligence and machine learning to construct predictive models for congenital diarrhea and enteropathy by combining children's clinical phenotypes and multi-omics results，such as the random forest model	Within approximately 30 months of enrollment

Collaborators and Investigators

• Sponsor: Children's Hospital of Fudan University

Study record dates

Study Major Dates

• Study Start (Actual): April 15, 2024
• Primary Completion (Estimated): April 1, 2026
• Study Completion (Estimated): October 1, 2026

Study Registration Dates

• First Submitted: March 21, 2024
• First Submitted That Met QC Criteria: April 7, 2024
• First Posted (Actual): April 10, 2024

Study Record Updates

• Last Update Posted (Estimated): September 10, 2025
• Last Update Submitted That Met QC Criteria: September 3, 2025
• Last Verified: September 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Signs and Symptoms, Digestive; Pathological Conditions, Signs and Symptoms; Signs and Symptoms; Diarrhea; Diarrhea, Infantile
• Other Study ID Numbers: OMICS_CODE_01

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No