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

Primary Purpose

Intestinal Epithelial Dysplasia, Tufting Enteropathy

Status
Completed
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
blood samples and skin biopsies
Skin biopsies
Sponsored by
Assistance Publique - Hôpitaux de Paris
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional diagnostic trial for Intestinal Epithelial Dysplasia focused on measuring intestinal epithelial dysplasia, characterization phenotypic, genetic study, or " tufting enteropathy "

Eligibility Criteria

undefined - 15 Years (Child)All SexesDoes not accept healthy volunteers

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)

Sites / Locations

  • Necker Hospital

Arms of the Study

Arm 1

Arm 2

Arm Type

Experimental

Other

Arm Label

Patients

Control

Arm Description

intestinal epithelial dysplasia

Children without intestinal epithelial dysplasia

Outcomes

Primary Outcome Measures

gene identification
identification of different family of genes involved in intestinal dysplasia

Secondary Outcome Measures

mutation identification
Identification of different mutations involved in intestinal dysplasia

Full Information

First Posted
April 29, 2010
Last Updated
August 1, 2013
Sponsor
Assistance Publique - Hôpitaux de Paris
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1. Study Identification

Unique Protocol Identification Number
NCT01114035
Brief Title
Characterization Phenotypic and Genetic Study of the Intestinal Epithelial Dysplasia or Tufting Enteropathy (TE)
Acronym
DEI
Official Title
Characterization Phenotypic and Genetic Study of the Intestinal Epithelial Dysplasia or TE
Study Type
Interventional

2. Study Status

Record Verification Date
August 2013
Overall Recruitment Status
Completed
Study Start Date
April 2010 (undefined)
Primary Completion Date
April 2013 (Actual)
Study Completion Date
July 2013 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Assistance Publique - Hôpitaux de Paris

4. Oversight

Data Monitoring Committee
No

5. Study Description

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

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Intestinal Epithelial Dysplasia, Tufting Enteropathy
Keywords
intestinal epithelial dysplasia, characterization phenotypic, genetic study, or " tufting enteropathy "

7. Study Design

Primary Purpose
Diagnostic
Study Phase
Not Applicable
Interventional Study Model
Parallel Assignment
Masking
None (Open Label)
Allocation
Non-Randomized
Enrollment
41 (Actual)

8. Arms, Groups, and Interventions

Arm Title
Patients
Arm Type
Experimental
Arm Description
intestinal epithelial dysplasia
Arm Title
Control
Arm Type
Other
Arm Description
Children without intestinal epithelial dysplasia
Intervention Type
Genetic
Intervention Name(s)
blood samples and skin biopsies
Intervention Description
to detect mutations
Intervention Type
Genetic
Intervention Name(s)
Skin biopsies
Other Intervention Name(s)
to detect mutations
Intervention Description
to detect mutations
Primary Outcome Measure Information:
Title
gene identification
Description
identification of different family of genes involved in intestinal dysplasia
Time Frame
6 months
Secondary Outcome Measure Information:
Title
mutation identification
Description
Identification of different mutations involved in intestinal dysplasia
Time Frame
6 months

10. Eligibility

Sex
All
Maximum Age & Unit of Time
15 Years
Accepts Healthy Volunteers
No
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)
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Olivier Goulet, MD, PhD
Organizational Affiliation
Assistance Publique - Hôpitaux de Paris
Official's Role
Principal Investigator
Facility Information:
Facility Name
Necker Hospital
City
Paris
ZIP/Postal Code
75015
Country
France

12. IPD Sharing Statement

Learn more about this trial

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

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