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

Study Overview
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Brief Summary
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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
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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

Official Title
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Characterization Phenotypic and Genetic Study of the Intestinal Epithelial Dysplasia or TE

Conditions
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Tufting Enteropathy, Intestinal Epithelial Dysplasia

Intervention / Treatment
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* Genetic: blood samples and skin biopsies
* Genetic: Skin biopsies


Participation Criteria
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Eligibility Criteria
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Inclusion criteria : Patient sent in the service of Gastroenterology Pediatric Hepatology of the Hospital Necker Enfants Malades for an intestinal transplantation, from 0 to 15 years old presenting: A known epithelial dysplasia (Diagnosis established on the clinical and histo-morphological criteria from one or several intestinal biopsies, with or without diagnosis known or suspected in the family). The objectives are the phenotypic characterization of the case and the revealing of markers characteristic immuno-histochemistry which can be of use to the diagnosis and direct to candidate genes Or a suspicion of dysplasia epithelial (compatible clinical History(Story) with or without extra-digestive demonstrations(appearances) of type keratinate punctuated superficial (KPS), abnormalities cutanea or atresia CHOANS with atypical digestive histology and without diagnosis known in the family). The objectives are the diagnosis on the basis of the immuno-histochemistry expression and the existence of an infringement(achievement) conjunctival and the phenotypic characterization of the case The lit(enlightened) and written consent of both holders of the parental authority must be beforehand obtained as well as that of the patient if it is in age to understand(include). Exclusion criteria : Not membership in a national insurance scheme (beneficiary or legal successor) Family not understanding(including) French Refusal of one of both relatives(parents)

Ages Eligible for Study
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Maximum Age: 15 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Diagnostic
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Patients<br>intestinal epithelial dysplasia | Genetic: blood samples and skin biopsies<br>* to detect mutations<br>|
| Other: Control<br>Children without intestinal epithelial dysplasia | Genetic: Skin biopsies<br>* to detect mutations<br>* Other names: to detect mutations;|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| gene identification | identification of different family of genes involved in intestinal dysplasia | 6 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| mutation identification | Identification of different mutations involved in intestinal dysplasia | 6 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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intestinal epithelial dysplasia, characterization phenotypic, genetic study, or  tufting enteropathy