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

15 Years
Open (Enrolling)
Intestinal Epithelial Dysplasia, Tufting Enteropathy

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Trial Information

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

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

Inclusion 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

- 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

- 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

- 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

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)

Type of Study:


Study Design:

Allocation: Non-Randomized, Intervention Model: Parallel Assignment, Masking: Open Label, Primary Purpose: Diagnostic

Outcome Measure:

gene identification

Outcome Description:

identification of different family of genes involved in intestinal dysplasia

Outcome Time Frame:

6 months

Safety Issue:


Principal Investigator

Olivier Goulet, MD, PhD

Investigator Role:

Principal Investigator

Investigator Affiliation:

Assistance Publique - Hôpitaux de Paris


France: Ministry of Health

Study ID:

P 070163



Start Date:

April 2010

Completion Date:

August 2013

Related Keywords:

  • Intestinal Epithelial Dysplasia
  • Tufting Enteropathy
  • intestinal epithelial dysplasia
  • characterization phenotypic
  • genetic study
  • or " tufting enteropathy "
  • Intestinal Diseases
  • Hyperplasia
  • Carcinoma in Situ