Characterization of Phenotype and Genotype of Early Onset Enteropathies

NCT ID: NCT02614911

Last Updated: 2025-04-30

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

1445 participants

Study Classification

OBSERVATIONAL

Study Start Date

2014-06-16

Study Completion Date

2054-06-15

Brief Summary

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This study has been set up in order to characterize phenotypes and genotypes of patients with early onset enteropathies.

In that goal, Investigators will collect biological samples (mainly blood) of patients suffering from early onset enteropathies and their healthy relatives.

Detailed Description

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This study specifically aims at the genetic analysis of early onset enteropathies with the goal in mind to delineate human pathways necessary to maintain intestinal homeostasis despite the considerable density of microbes colonizing the distal part of the human intestine.

Conditions

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Inflammatory Bowel Disease

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Sick patients

Biological sampling of blood for all patients. Biological sampling of saliva, biopsies (skin and endoscopic), feces, for some patients

Biological sampling

Intervention Type OTHER

Biological sampling including blood, feces, biopsies...

Healthy relatives

Biological sampling of blood for all healthy relatives

Biological sampling

Intervention Type OTHER

Biological sampling including blood, feces, biopsies...

Interventions

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Biological sampling

Biological sampling including blood, feces, biopsies...

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* Severe chronic enteropathy
* Patients developing their first symptoms within the first 6 years of life and, in priority within the first two years of life, or patients with a disease of later onset, in case of a familial history suggestive of inherited mutations notably in families comprising several affected members
* OR : Be a patient's relative, even if presenting with enteropathy of later onset.

Exclusion Criteria

* Subject having participated to any therapeutical clinical study in the 30 days preceding the inclusion in this study,
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Imagine Institute

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Frank Ruemmele

Role: PRINCIPAL_INVESTIGATOR

Necker - Enfants Malades Hospital

Locations

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Centre Hospitalier Pellegrin-Enfants

Bordeaux, , France

Site Status RECRUITING

Hôpital pédiatrique de Lyon

Bron, , France

Site Status RECRUITING

Hôpital Jeanne de Flandre, CHRU de Lille

Lille, , France

Site Status RECRUITING

Hôpital d'enfants de la Timone

Marseille, , France

Site Status RECRUITING

Hôpital Saint Antoine

Paris, , France

Site Status RECRUITING

Necker - Enfants Malades Hospital

Paris, , France

Site Status RECRUITING

Hôpital Robert Debré

Paris, , France

Site Status RECRUITING

Hôpital Trousseau

Paris, , France

Site Status RECRUITING

Hôpital Sud

Rennes, , France

Site Status RECRUITING

CHU Hautepierre

Strasbourg, , France

Site Status NOT_YET_RECRUITING

Hôpital des Enfants

Toulouse, , France

Site Status RECRUITING

Hôpital Clocheville, CHU de Tours

Tours, , France

Site Status RECRUITING

Countries

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France

Central Contacts

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Nadine Cerf-Bensussan

Role: CONTACT

+ 33 1 42 75 42 88

Fabienne Charbit-Henrion

Role: CONTACT

+33 1 42 75 42 45

Facility Contacts

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Thierry Lamireau

Role: primary

Alain Lachaux

Role: primary

+33 4 72 12 94 32

Frédéric Gottrant

Role: primary

+33 3 20 44 46 95

Alexandre Fabre

Role: primary

+33 4 91 38 80 60

Philippe Seksik

Role: primary

+33 1 49 28 31 62

Frank Ruemmele

Role: primary

+33 1 42 75 42 88

Jean-Pierre Hugot

Role: primary

+33 1 40 03 57 12

Patrick Tounian

Role: primary

+33 1 44 73 64 46

Alain Dabadie

Role: primary

+33 2 99 26 67 33

Julie Rebeuh

Role: primary

Anne Breton

Role: primary

+33 5 34 55 85 60

Stéphanie Willot

Role: primary

+33 2 47 47 47 55

Other Identifiers

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IMIS2014-01

Identifier Type: -

Identifier Source: org_study_id

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