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

NCT ID: NCT01114035

Last Updated: 2013-08-02

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

41 participants

Study Classification

INTERVENTIONAL

Study Start Date

2010-04-30

Study Completion Date

2013-07-31

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

Conditions

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Intestinal Epithelial Dysplasia Tufting Enteropathy

Keywords

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intestinal epithelial dysplasia characterization phenotypic genetic study or " tufting enteropathy "

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

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Patients

intestinal epithelial dysplasia

Group Type EXPERIMENTAL

blood samples and skin biopsies

Intervention Type GENETIC

to detect mutations

Control

Children without intestinal epithelial dysplasia

Group Type OTHER

Skin biopsies

Intervention Type GENETIC

to detect mutations

Interventions

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blood samples and skin biopsies

to detect mutations

Intervention Type GENETIC

Skin biopsies

to detect mutations

Intervention Type GENETIC

Other Intervention Names

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to detect mutations

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)
Maximum Eligible Age

15 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Olivier Goulet, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Assistance Publique - Hôpitaux de Paris

Locations

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Necker Hospital

Paris, , France

Site Status

Countries

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France

Other Identifiers

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ID RCB 2009-A01522-53

Identifier Type: OTHER

Identifier Source: secondary_id

P 070163

Identifier Type: -

Identifier Source: org_study_id