Epidemiological Screening of IL10RA Mutation Rate in China
- Conditions
- Digestive System Disease
- Registration Number
- NCT03097731
- Lead Sponsor
- Children's Hospital of Fudan University
- 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.
- 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.
Recruitment & Eligibility
- Status
- WITHDRAWN
- Sex
- All
- Target Recruitment
- Not specified
- In the study period, all newborns in the selected hospita
- Children whose guardian refused to participate in the study
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method The mutation rate of IL-10RA in chinese From birth to 3 years old All present mutations in IL-10RA
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
Children's hospital of Fudan university
🇨🇳Shanghai, Shanghai, China