Clinical trial NCT01114035: Characterization Phenotypic and Genetic Study of the Intestinal Epithelial Dysplasia or Tufting Enteropathy (TE)
Official title: Characterization Phenotypic and Genetic Study of the Intestinal Epithelial Dysplasia or TE
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Intestinal Epithelial Dysplasia
Tufting Enteropathy
Keywords: intestinal epithelial dysplasia
characterization phenotypic
genetic study
or " tufting enteropathy "
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Sponsor class: OTHER
First posted: 2010-04-30
Enrollment: 41
Sex: ALL
Maximum age (years): 15
Standard ages: CHILD
Accepts healthy volunteers: no
Allocation: NON_RANDOMIZED
Intervention model: PARALLEL
Primary purpose: DIAGNOSTIC

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

Eligibility 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)

Primary outcomes:
measure: gene identification
timeFrame: 6 months
Secondary outcomes:
measure: mutation identification
timeFrame: 6 months
Other outcomes:
Locations:
city: Paris
country: France
facility: Necker Hospital
Study officials:
affiliation: Assistance Publique - Hôpitaux de Paris
name: Olivier Goulet, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: