Epidemiological Screening of IL10RA Mutation Rate in China (Yes)

Epidemiological Screening of p.R101W and p.T179T IL10RA Mutation Rates in Henan Province, China

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.

Study Overview

• Status: Withdrawn
• Conditions: Digestive System Disease

Detailed Description

1. The mutation rates of p.R101W and p.T179T IL10RA in Henan newborn.
2. Is there any clinical symptoms in children with IL-10RA-deficient? and the onset of the symptoms.
3. Whether the intestinal permeability is normal in heterozygote subjects.

• Study Type: Observational

Contacts and Locations

Study Locations

• China
  • Shanghai
    • Shanghai, Shanghai, China, 201102
      • Children's Hospital of Fudan University

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 day to 4 weeks (CHILD)
• Accepts Healthy Volunteers: N/A
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

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

Description

Inclusion Criteria:

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

Exclusion Criteria:

• Children whose guardian refused to participate in the study

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
The mutation rate of IL-10RA in chinese	All present mutations in IL-10RA	From birth to 3 years old

Collaborators and Investigators

• Sponsor: Children's Hospital of Fudan University
• Investigators: Study Director: Ying Huang, MD and PhD, Children's Hospital of Fudan University

Study record dates

Study Major Dates

• Study Start (ANTICIPATED): July 1, 2019
• Primary Completion (ANTICIPATED): July 1, 2020
• Study Completion (ANTICIPATED): July 1, 2021

Study Registration Dates

• First Submitted: February 27, 2017
• First Submitted That Met QC Criteria: March 30, 2017
• First Posted (ACTUAL): March 31, 2017

Study Record Updates

• Last Update Posted (ACTUAL): May 1, 2019
• Last Update Submitted That Met QC Criteria: April 29, 2019
• Last Verified: April 1, 2019

More Information

Terms related to this study

• Keywords: inflammatory bowel disease; interleukin-10
• Additional Relevant MeSH Terms: Gastrointestinal Diseases; Digestive System Diseases
• Other Study ID Numbers: 20170208 (WIRB)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

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