Intestinal Epithelial DysplasiaDEINCT01114035
Characterization Phenotypic and Genetic Study of the Intestinal Epithelial Dysplasia or Tufting Enteropathy (TE)
A study testing blood samples and skin biopsies and Skin biopsies in people with Intestinal Epithelial Dysplasia and Tufting Enteropathy, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial 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). Read more about this study
- Who is it for?
- Ages Up to 15 years
- Conditions the study is for
- Intestinal Epithelial Dysplasia, Tufting Enteropathy
- What is being tested?
- blood samples and skin biopsies and Skin biopsies
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 41 participants
- Where
- 1 siteFrance
- Study dates
- Apr 2010to Jul 2013
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 15 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- 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).
Who cannot join
- Not membership in a national insurance scheme (beneficiary or legal successor)
- Family not understanding(including) French
- Refusal of one of both relatives(parents)
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Characterization Phenotypic and Genetic Study of the Intestinal Epithelial Dysplasia or TE
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).
Read the 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
- Being tested
- blood samples and skin biopsies, Skin biopsies
- Keywords
- intestinal epithelial dysplasia, characterization phenotypic, genetic study, or " tufting enteropathy "
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
blood samples and skin biopsiesGenetic
to detect mutations
Skin biopsiesGenetic
Also called to detect mutations
to detect mutations
| Study group | Role | What they receive |
|---|---|---|
| Patients | Experimental | intestinal epithelial dysplasia Receives: Genetic: blood samples and skin biopsies |
| Control | Other | Children without intestinal epithelial dysplasia Receives: Genetic: Skin biopsies |
What is being measured
The primary outcome is the main question the study is designed to answer.
gene identification
identification of different family of genes involved in intestinal dysplasia
Measured: 6 months
Secondary outcomes (1)
mutation identification
Identification of different mutations involved in intestinal dysplasia
Measured: 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Apr 2010 (estimated)
- Study startApr 2010
- Primary completionApr 2013
- Study completionJul 2013
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Intestinal Epithelial DysplasiaStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 41 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Responsible party
- Sponsor
- Investigators
- Olivier Goulet, MD, PhD, Principal investigator, Assistance Publique - Hôpitaux de Paris
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01114035
- Sponsor's protocol ID
- P070163
- Other IDs
- ID RCB 2009-A01522-53
- Acronym
- DEI
- Status last verified
- Mar 2026
- First submitted
- 29 Apr 2010
- Last updated
- 27 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
Publications
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.
PubMed 20447614
Study at a glance
From the registry record, last updated by the sponsor on 27 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characterization Phenotypic and Genetic Study of the Intestinal Epithelial Dysplasia or TE
- ClinicalTrials.gov ID
- NCT01114035
- Acronym / sponsor ID
- DEI / P070163
- Keywords
- intestinal epithelial dysplasia, characterization phenotypic, genetic study, or " tufting enteropathy "
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 41 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Study start
- Apr 2010
- Primary completion
- Apr 2013 (actual)
- Study completion
- Jul 2013 (actual)
- First posted
- 30 Apr 2010 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
Study design
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients | Experimental | Genetic: blood samples and skin biopsiesintestinal epithelial dysplasia |
| Control | Other | Genetic: Skin biopsiesChildren without intestinal epithelial dysplasia |
Who may qualify
- Ages
- Up to 15 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (4 listed)
- 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).
Key exclusion criteria (3 listed)
- Not membership in a national insurance scheme (beneficiary or legal successor)
- Family not understanding(including) French
- Refusal of one of both relatives(parents)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| blood samples and skin biopsiesto detect mutations | Genetic | Patients |
| Skin biopsiesAlso: to detect mutationsto detect mutations | Genetic | Control |
Primary outcome
gene identification
Time frame: 6 months
identification of different family of genes involved in intestinal dysplasia
1 secondary outcome
mutation identification
Time frame: 6 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Mar 2026.
- Results publication: PubMed 20447614Roche 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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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Olivier Goulet, MD, PhD principal investigator
Assistance Publique - Hôpitaux de Paris
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing blood samples and skin biopsies and Skin biopsies in people with Intestinal Epithelial Dysplasia and Tufting Enteropathy, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 27 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
gene identification (time frame: 6 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01114035, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Mar 2026.