Epidemiological Screening of IL10RA Mutation Rate in China

Digestive System Disease Clinical Trial

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Official title:

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

Clinical Trial Details — Status: Withdrawn

Administrative data

• NCT number: NCT03097731
• Other study ID #: 20170208
• Status: Withdrawn
• Start date: July 1, 2019
• Est. completion date: July 1, 2021

Study information

• Verified date: April 2019
• Source: Children's Hospital of Fudan University
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

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 information / eligibility

• Status: Withdrawn
• Enrollment: 0
• Est. completion date: July 1, 2021
• Est. primary completion date: July 1, 2020
• Gender: All
• Age group: N/A to 28 Days

Eligibility

Inclusion Criteria:

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

Exclusion Criteria:

• Children whose guardian refused to participate in the study

Related Conditions & MeSH terms

• Digestive System Disease
• Digestive System Diseases
• Gastrointestinal Diseases

Locations

Country	Name	City	State
China	Children's hospital of Fudan university	Shanghai	Shanghai

Sponsors (1)

Lead Sponsor	Collaborator
Children's Hospital of Fudan University

Country where clinical trial is conducted

China, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	The mutation rate of IL-10RA in chinese	All present mutations in IL-10RA	From birth to 3 years old