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

August 1, 2013 updated by: Assistance Publique - Hôpitaux de Paris

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

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).

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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 Type

Interventional

Enrollment (Actual)

41

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Paris, France, 75015
        • Necker Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 15 years (CHILD)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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)

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: DIAGNOSTIC
  • Allocation: NON_RANDOMIZED
  • Interventional Model: PARALLEL
  • Masking: NONE

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
EXPERIMENTAL: Patients
intestinal epithelial dysplasia
Genetic: blood samples and skin biopsies
to detect mutations
OTHER: Control
Children without intestinal epithelial dysplasia
Genetic: Skin biopsies
to detect mutations
Other Names:
  • to detect mutations

What is the study measuring?

Primary Outcome Measures

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

Secondary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Assistance Publique - Hôpitaux de Paris

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

April 1, 2010

Primary Completion (ACTUAL)

April 1, 2013

Study Completion (ACTUAL)

July 1, 2013

Study Registration Dates

First Submitted

April 29, 2010

First Submitted That Met QC Criteria

April 29, 2010

First Posted (ESTIMATE)

April 30, 2010

Study Record Updates

Last Update Posted (ESTIMATE)

August 2, 2013

Last Update Submitted That Met QC Criteria

August 1, 2013

Last Verified

August 1, 2013

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • P 070163
  • ID RCB 2009-A01522-53 (OTHER: AFSSAPS)

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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