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| ID | Type | Description | Link |
|---|---|---|---|
| ID RCB 2009-A01522-53 | Other Identifier | AFSSAPS |
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| Name | Class |
|---|---|
| URC-CIC Paris Descartes Necker Cochin | OTHER |
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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).
The objectives of this PHRC are:
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients | Experimental | intestinal epithelial dysplasia |
|
| Control | Other | Children without intestinal epithelial dysplasia |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| blood samples and skin biopsies | Genetic | to detect mutations |
| |
| Measure | Description | Time Frame |
|---|---|---|
| gene identification | identification of different family of genes involved in intestinal dysplasia | 6 months |
| Measure | Description | Time Frame |
|---|---|---|
| mutation identification | Identification of different mutations involved in intestinal dysplasia | 6 months |
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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:
Exclusion criteria :
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| Name | Affiliation | Role |
|---|---|---|
| Olivier Goulet, MD, PhD | Assistance Publique - Hôpitaux de Paris | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Necker Hospital | Paris | 75015 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 20447614 | Result | 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. |
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| Skin biopsies |
| Genetic |
to detect mutations |
|
|
| ID | Term |
|---|---|
| D001800 | Blood Specimen Collection |
| ID | Term |
|---|---|
| D013048 | Specimen Handling |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D011677 | Punctures |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |
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