Characterization of Phenotype and Genotype of Early Onset Enteropathies

Recruiting

• Conditions: Inflammatory Bowel Disease
• Interventions: Other: Biological sampling

• Registration Number: NCT02614911
• Lead Sponsor: Imagine Institute

Brief Summary

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

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.

Study Timeline

• Study Start: 2014-06-16
• Study First Submitted: 2015-11-10
• Study First Submitted QC: 2015-11-24
• Study First Posted: 2015-11-25
• Status Verified: 2025-04
• Last Update Submitted: 2025-04-29
• Last Update Posted: 2025-04-30
• Primary Completion: 2054-06-15
• Study Completion: 2054-06-15

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 1445

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.

Main

Exclusion Criteria

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Healthy relatives	Biological sampling	Biological sampling of blood for all healthy relatives
Sick patients	Biological sampling	Biological sampling of blood for all patients. Biological sampling of saliva, biopsies (skin and endoscopic), feces, for some patients

Primary Outcome Measures

Name	Time	Method
Increasing the current rate (20%) of genetic characterization of early onset entheropathies	40 years	Currently, around 20% of early onset entheropathies are genetically characterized. Investigators want to increase this rate via this research protocol.; Our long term objective is to characterize phenotypes and genotypes of patients with early onset enteropathies.

Trial Locations

Locations (12)

Necker - Enfants Malades Hospital; 🇫🇷 Paris, France

Hôpital pédiatrique de Lyon; 🇫🇷 Bron, France

Hôpital Sud; 🇫🇷 Rennes, France

Hôpital d'enfants de la Timone; 🇫🇷 Marseille, France

Centre Hospitalier Pellegrin-Enfants; 🇫🇷 Bordeaux, France

Hôpital Saint Antoine; 🇫🇷 Paris, France

Hôpital Robert Debré; 🇫🇷 Paris, France

Hôpital Trousseau; 🇫🇷 Paris, France

Hôpital Jeanne de Flandre, CHRU de Lille; 🇫🇷 Lille, France

CHU Hautepierre; 🇫🇷 Strasbourg, France

Hôpital des Enfants; 🇫🇷 Toulouse, France

Hôpital Clocheville, CHU de Tours; 🇫🇷 Tours, France