Characterization Phenotypic and Genetic Study of the Intestinal Epithelial Dysplasia or Tufting Enteropathy (TE) (DEI)
This study is currently recruiting participants.
Verified July 2012 by Assistance Publique - Hôpitaux de Paris
Sponsor:
Assistance Publique - Hôpitaux de Paris
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier:
NCT01114035
First received: April 29, 2010
Last updated: July 25, 2012
Last verified: July 2012
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Purpose
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 |
Further study details as provided by Assistance Publique - Hôpitaux de Paris:
Primary Outcome Measures:
- gene identification [ Time Frame: 6 months ] [ Designated as safety issue: No ]identification of different family of genes involved in intestinal dysplasia
Secondary Outcome Measures:
- mutation identification [ Time Frame: 6 months ] [ Designated as safety issue: No ]Identification of different mutations involved in intestinal dysplasia
| Estimated Enrollment: | 240 |
| Study Start Date: | April 2010 |
| Estimated Study Completion Date: | August 2013 |
| Estimated 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
Other Name: blood samples and skin biopsies
|
|
Control
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
Eligibility| Ages Eligible for Study: | up to 15 Years |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
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)
Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01114035
Contacts
| Contact: Olivier Goulet, MD, PhD | 0033144492560 | olivier.goulet@nck.aphp.fr |
| Contact: Raphaël Serreau, MD, PhD | 0033158411180 | raphael.serreau@cch.aphp.fr |
Locations
| France | |
| Necker Hospital | Recruiting |
| Paris, France, 75015 | |
| Principal Investigator: Olivier Goulet, MD, PhD | |
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Investigators
| Principal Investigator: | Olivier Goulet, MD, PhD | Assistance Publique - Hôpitaux de Paris |
More Information
No publications provided
| Responsible Party: | Assistance Publique - Hôpitaux de Paris |
| ClinicalTrials.gov Identifier: | NCT01114035 History of Changes |
| Other Study ID Numbers: | P 070163, ID RCB 2009-A01522-53 |
| Study First Received: | April 29, 2010 |
| Last Updated: | July 25, 2012 |
| Health Authority: | France: Ministry of Health |
Keywords provided by Assistance Publique - Hôpitaux de Paris:
|
intestinal epithelial dysplasia characterization phenotypic genetic study or " tufting enteropathy " |
Additional relevant MeSH terms:
|
Intestinal Diseases Hyperplasia Carcinoma in Situ Gastrointestinal Diseases Digestive System Diseases |
Pathologic Processes Carcinoma Neoplasms, Glandular and Epithelial Neoplasms by Histologic Type Neoplasms |
ClinicalTrials.gov processed this record on May 16, 2013