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

Assistance Publique - Hôpitaux de Paris

Status: Completed

Conditions: Tufting Enteropathy; Intestinal Epithelial Dysplasia

Treatments: Genetic: Skin biopsies; Genetic: blood samples and skin biopsies

Study type: Interventional

Funder types: Other

Identifiers

NCT01114035

ID RCB 2009-A01522-53 (Other Identifier)

P 070163

Details and patient eligibility

About

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).

Full 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

Enrollment: 41 patients

Sex: All

Ages: Under 15 years old

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

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)

Trial design

Primary purpose: Diagnostic

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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41 participants in 2 patient groups

Patients

Experimental group

Description:

intestinal epithelial dysplasia

Treatment:

Genetic: blood samples and skin biopsies

Control

Other group

Description:

Children without intestinal epithelial dysplasia

Treatment:

Genetic: Skin biopsies