Characterization of Phenotype and Genotype of Early Onset Enteropathies
IMMUNOBIOTA
Host-Microbiota Interactions Across the Gut Immune System: Characterization of Phenotype and Genotype of Early Onset Enteropathies
1 other identifier
observational
1,445
1 country
12
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Jun 2014
Longer than P75 for all trials
12 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
June 16, 2014
CompletedFirst Submitted
Initial submission to the registry
November 10, 2015
CompletedFirst Posted
Study publicly available on registry
November 25, 2015
CompletedPrimary Completion
Last participant's last visit for primary outcome
June 15, 2054
ExpectedStudy Completion
Last participant's last visit for all outcomes
June 15, 2054
April 30, 2025
April 1, 2025
40 years
November 10, 2015
April 29, 2025
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Increasing the current rate (20%) of genetic characterization of early onset entheropathies
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.
40 years
Study Arms (2)
Sick patients
Biological sampling of blood for all patients. Biological sampling of saliva, biopsies (skin and endoscopic), feces, for some patients
Healthy relatives
Biological sampling of blood for all healthy relatives
Interventions
Biological sampling including blood, feces, biopsies...
Eligibility Criteria
Inclusion of patients with chronic severe entheropathy and of their healthy relatives
You may qualify if:
- 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.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (12)
Centre Hospitalier Pellegrin-Enfants
Bordeaux, 33076, France
Hôpital pédiatrique de Lyon
Bron, 69677, France
Hôpital Jeanne de Flandre, CHRU de Lille
Lille, 59037, France
Hôpital d'enfants de la Timone
Marseille, 13385, France
Hôpital Saint Antoine
Paris, 75012, France
Necker - Enfants Malades Hospital
Paris, 75015, France
Hôpital Robert Debré
Paris, 75019, France
Hôpital Trousseau
Paris, 75020, France
Hôpital Sud
Rennes, 35203, France
CHU Hautepierre
Strasbourg, 67000, France
Hôpital des Enfants
Toulouse, 31059, France
Hôpital Clocheville, CHU de Tours
Tours, 37000, France
Biospecimen
Collection of: * blood samples * feces * biopsies (intestine / skin) * saliva * urina
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Frank Ruemmele
Necker - Enfants Malades Hospital
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
November 10, 2015
First Posted
November 25, 2015
Study Start
June 16, 2014
Primary Completion (Estimated)
June 15, 2054
Study Completion (Estimated)
June 15, 2054
Last Updated
April 30, 2025
Record last verified: 2025-04