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Epidemiological Screening of IL10RA Mutation Rate in China

NCT03097731 · Status: WITHDRAWN · Type: OBSERVATIONAL

Last updated 2019-05-01

No results posted yet for this study

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

Sponsors & Collaborators

  • Children's Hospital of Fudan University

    lead OTHER

Principal Investigators

  • Ying Huang, MD and PhD · Children's Hospital of Fudan University

Eligibility

Min Age
24 Hours
Max Age
28 Days
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-07-01
Primary Completion
2020-07-01
Completion
2021-07-01

Countries

  • China

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03097731 on ClinicalTrials.gov