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

This study has been completed.
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris Identifier:
First received: April 29, 2010
Last updated: August 1, 2013
Last verified: August 2013
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).

Condition Intervention
Intestinal Epithelial Dysplasia
Tufting Enteropathy
Genetic: blood samples and skin biopsies
Genetic: Skin biopsies

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: Open Label
Primary Purpose: Diagnostic
Official Title: Characterization Phenotypic and Genetic Study of the Intestinal Epithelial Dysplasia or TE

Resource links provided by NLM:

Further study details as provided by Assistance Publique - Hôpitaux de Paris:

Primary Outcome Measures:
  • gene identification [ Time Frame: 6 months ]
    identification of different family of genes involved in intestinal dysplasia

Secondary Outcome Measures:
  • mutation identification [ Time Frame: 6 months ]
    Identification of different mutations involved in intestinal dysplasia

Enrollment: 41
Study Start Date: April 2010
Study Completion Date: July 2013
Primary Completion Date: April 2013 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: Patients
intestinal epithelial dysplasia
Genetic: blood samples and skin biopsies
to detect mutations
Children without intestinal epithelial dysplasia
Genetic: Skin biopsies
to detect mutations
Other Name: to detect mutations

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

Ages Eligible for Study:   up to 15 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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)
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Please refer to this study by its identifier: NCT01114035

Necker Hospital
Paris, France, 75015
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Principal Investigator: Olivier Goulet, MD, PhD Assistance Publique - Hôpitaux de Paris
  More Information

Responsible Party: Assistance Publique - Hôpitaux de Paris Identifier: NCT01114035     History of Changes
Other Study ID Numbers: P 070163
ID RCB 2009-A01522-53 ( Other Identifier: AFSSAPS )
Study First Received: April 29, 2010
Last Updated: August 1, 2013

Keywords provided by Assistance Publique - Hôpitaux de Paris:
intestinal epithelial dysplasia
characterization phenotypic
genetic study
or " tufting enteropathy "

Additional relevant MeSH terms:
Intestinal Diseases
Carcinoma in Situ
Pathologic Processes
Gastrointestinal Diseases
Digestive System Diseases
Neoplasms, Glandular and Epithelial
Neoplasms by Histologic Type
Neoplasms processed this record on May 24, 2017