Epidemiological Screening of IL10RA Mutation Rate in China

NCT03097731 | Withdrawn DMC

• 1 other identifier: 20170208
• Study Type: observational
• Target: N/A
• Locations: 1 country
• Sites: 1

Brief Summary

The presentation of IBD in early childhood is uncommon and the monogenetic defects, especially IL-10 signaling pathway play a key role in very early onset inflammatory bowel disease (VEO-IBD). IL-10 or IL-10R deficiency associated VEO-IBD is considered a rare disorder. To date, there were about 60 cases were reported all over the word. But in our Chinese VEO-IBD Collaboration Group, 42 patients with biallelic mutations affecting IL10R genes were identified from 93 VEO-IBD patients, and the mutation sites are highly concentrated, including 83.9% (26/31) with p.R101W and 55% p.T179T (17/31) mutation, and the proportion of patients from Henan( A province of China) is higher. So we speculate that IL-10RA mutation may not be very rare, and the frequency of heterozygote subjects might be higher than suspected.

Conditions

Digestive System Disease

Keywords

interleukin-10; inflammatory bowel disease

Outcome Measures

Primary Outcomes (1)

• The mutation rate of IL-10RA in chinese

  All present mutations in IL-10RA

  From birth to 3 years old

Eligibility Criteria

• Age: 24 Hours - 28 Days
• Sex: all
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

In the study period, all newborns in the selected hospital were included.

You may qualify if:

• In the study period, all newborns in the selected hospita

You may not qualify if:

• Children whose guardian refused to participate in the study

Sponsors & Collaborators

• Children's Hospital of Fudan University: lead

Study Sites (1)

Children's hospital of Fudan university

Shanghai, Shanghai Municipality, 201102, China

Location

Biospecimen

Retention: SAMPLES WITH DNA

Samples will be stored in 4 degrees refrigerator for the future research

MeSH Terms

Conditions

Digestive System Diseases; Inflammatory Bowel Diseases

Condition Hierarchy (Ancestors)

Gastroenteritis; Gastrointestinal Diseases; Intestinal Diseases

Study Officials

• Ying Huang, MD and PhD

  Children's Hospital of Fudan University

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: CASE CROSSOVER
• Time Perspective: PROSPECTIVE
• Target Duration: 3 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 27, 2017
• First Posted: March 31, 2017
• Study Start: July 1, 2019
• Primary Completion: July 1, 2020
• Study Completion: July 1, 2021
• Last Updated: May 1, 2019

Record last verified: 2019-04

Locations

CN (1)