Epidemiological Screening of IL10RA Mutation Rate in China
Overview
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.
Full Title of Study: “Epidemiological Screening of p.R101W and p.T179T IL10RA Mutation Rates in Henan Province, China”
Study Type
- Study Type: Observational [Patient Registry]
- Study Design
- Time Perspective: Prospective
- Study Primary Completion Date: July 1, 2020
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.
Clinical Trial Outcome Measures
Primary Measures
- The mutation rate of IL-10RA in chinese
- Time Frame: From birth to 3 years old
- All present mutations in IL-10RA
Participating in This Clinical Trial
Inclusion Criteria
- In the study period, all newborns in the selected hospita Exclusion Criteria:
- Children whose guardian refused to participate in the study
Gender Eligibility: All
Minimum Age: 24 Hours
Maximum Age: 28 Days
Investigator Details
- Lead Sponsor
- Children’s Hospital of Fudan University
- Provider of Information About this Clinical Study
- Sponsor
- Overall Official(s)
- Ying Huang, MD and PhD, Study Director, Children’s Hospital of Fudan University
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