Inflammatory Bowel Disease
Conditions
Keywords
Early Onset Entheropathy
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.
Interventions
Biological sampling including blood, feces, biopsies...
Sponsors
Study design
Eligibility
Inclusion criteria
Main 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,
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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. |
Countries
France