Clinical Trials Logo

Digestive System Disease clinical trials

View clinical trials related to Digestive System Disease.

Filter by:
  • Withdrawn  
  • Page 1

NCT ID: NCT03097731 Withdrawn - Clinical trials for Digestive System Disease

Epidemiological Screening of IL10RA Mutation Rate in China

Yes
Start date: July 1, 2019
Phase:
Study type: Observational [Patient Registry]

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.