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Epidemiological Screening of IL10RA Mutation Rate in China (Yes)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT03097731
Recruitment Status : Withdrawn (Preliminary tests found that some newborns heel blood amount could not meet the test needs.)
First Posted : March 31, 2017
Last Update Posted : May 1, 2019
Information provided by (Responsible Party):
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.

Condition or disease
Digestive System Disease

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.

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Study Type : Observational [Patient Registry]
Actual Enrollment : 0 participants
Observational Model: Case-Crossover
Time Perspective: Prospective
Target Follow-Up Duration: 3 Years
Official Title: Epidemiological Screening of p.R101W and p.T179T IL10RA Mutation Rates in Henan Province, China
Estimated Study Start Date : July 1, 2019
Estimated Primary Completion Date : July 1, 2020
Estimated Study Completion Date : July 1, 2021

Resource links provided by the National Library of Medicine

Primary Outcome Measures :
  1. The mutation rate of IL-10RA in chinese [ Time Frame: From birth to 3 years old ]
    All present mutations in IL-10RA

Biospecimen Retention:   Samples With DNA
Samples will be stored in 4 degrees refrigerator for the future research

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 28 Days   (Child)
Sexes Eligible for Study:   All
Sampling Method:   Non-Probability Sample
Study Population
In the study period, all newborns in the selected hospital were included.

Inclusion Criteria:

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

Exclusion Criteria:

  • Children whose guardian refused to participate in the study

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03097731

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China, Shanghai
Children's hospital of Fudan university
Shanghai, Shanghai, China, 201102
Sponsors and Collaborators
Children's Hospital of Fudan University
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Study Director: Ying Huang, MD and PhD Children's Hospital of Fudan University

Additional Information:

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Responsible Party: Children's Hospital of Fudan University Identifier: NCT03097731     History of Changes
Other Study ID Numbers: 20170208
First Posted: March 31, 2017    Key Record Dates
Last Update Posted: May 1, 2019
Last Verified: April 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Children's Hospital of Fudan University:
inflammatory bowel disease

Additional relevant MeSH terms:
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Gastrointestinal Diseases
Digestive System Diseases