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

NCT01114035 | Completed

• 2 other identifiers: P070163ID RCB 2009-A01522-53
• Study Type: interventional
• Target: 41
• Locations: 1 country
• Sites: 1

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).

Conditions

Intestinal Epithelial Dysplasia; Tufting Enteropathy

Keywords

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

Outcome Measures

Primary Outcomes (1)

• gene identification

  identification of different family of genes involved in intestinal dysplasia

  6 months

Secondary Outcomes (1)

• mutation identification

  6 months

Study Arms (2)

Patients

EXPERIMENTAL

intestinal epithelial dysplasia

Genetic: blood samples and skin biopsies

Control

OTHER

Children without intestinal epithelial dysplasia

Genetic: Skin biopsies

Interventions

blood samples and skin biopsies GENETIC

to detect mutations

Patients

Skin biopsies GENETIC

to detect mutations

Also known as: to detect mutations

Control

Eligibility Criteria

• Age: Up to 15 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• 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).

You may not qualify if:

• Not membership in a national insurance scheme (beneficiary or legal successor)
• Family not understanding(including) French
• Refusal of one of both relatives(parents)

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead
• URC-CIC Paris Descartes Necker Cochin: collaborator

Study Sites (1)

Necker Hospital

Paris, 75015, France

Location

Related Publications (1)

• Roche O, Putterman M, Salomon J, Lacaille F, Brousse N, Goulet O, Dufier JL. Superficial punctate keratitis and conjunctival erosions associated with congenital tufting enteropathy. Am J Ophthalmol. 2010 Jul;150(1):116-121.e1. doi: 10.1016/j.ajo.2010.01.034. Epub 2010 May 5.

  PMID: 20447614 RESULT

MeSH Terms

Interventions

Blood Specimen Collection

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Olivier Goulet, MD, PhD

  Assistance Publique Hopitaux de Paris

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 29, 2010
• First Posted: April 30, 2010
• Study Start: April 1, 2010
• Primary Completion: April 1, 2013
• Study Completion: July 1, 2013
• Last Updated: March 27, 2026

Record last verified: 2026-03

Locations

FR (1)