Characterization Phenotypic and Genetic Study of the Intestinal Epithelial Dysplasia or Tufting Enteropathy (TE)

Not Applicable

Completed

• Conditions: Intestinal Epithelial Dysplasia; Tufting Enteropathy
• Interventions: Genetic: blood samples and skin biopsies; Genetic: Skin biopsies

• Registration Number: NCT01114035
• Lead Sponsor: Assistance Publique - Hôpitaux de Paris

Brief Summary

This PHRC is centred on the intestinal epithelial dysplasia ( DEI) or " tufting enteropathy " or TE the clinical and histo-pathological descriptions of which are specified well to the digestive plan(shot).

Detailed Description

The objectives of this PHRC are:

* the phenotypic analysis of the intestinal epithelial dysplasia by clinical and histo-pathological investigations.

* the identification of proteins involved at the intestinal level in the differentiation, the proliferation and the membership of the epithelial cells

* from the phenotypic study, a genetic analysis of type maps by homozygote on the whole genome partner in an approach guided by possible candidate genes

* the study of the genes, chosen according to their location, to their profile of expression, and to their function in touch with the pathogenic hypotheses

Study Timeline

• Study Start: 2010-04
• Study First Submitted: 2010-04-29
• Study First Submitted QC: 2010-04-29
• Study First Posted: 2010-04-30
• Primary Completion: 2013-04
• Study Completion: 2013-07
• Status Verified: 2013-08
• Last Update Submitted: 2013-08-01
• Last Update Posted: 2013-08-02

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 41

Inclusion Criteria

Not provided

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Exclusion Criteria

Not provided

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Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
Patients	blood samples and skin biopsies	intestinal epithelial dysplasia
Control	Skin biopsies	Children without intestinal epithelial dysplasia

Primary Outcome Measures

Name	Time	Method
gene identification	6 months	identification of different family of genes involved in intestinal dysplasia

Secondary Outcome Measures

Name	Time	Method
mutation identification	6 months	Identification of different mutations involved in intestinal dysplasia

Trial Locations

Locations (1)

Necker Hospital; 🇫🇷 Paris, France