Study of Genetic and Phenotypic Features in Early Onset Inflammatory Bowel Disease and Their Families

What this Trial Is About

Researchers are studying early onset enteropathies, a condition affecting the intestines, by examining the genetic and phenotypic characteristics of patients who develop symptoms early in life. The goal is to understand the human pathways that help maintain intestinal balance despite the dense microbial environment in the lower intestine. This observational study collects biological samples to better characterize these conditions. Participants include patients with early onset enteropathies and their healthy relatives. Biological samples collected include blood from all participants, with some patients also providing saliva, skin and endoscopic biopsies, and feces. The study focuses on genetic analysis to increase the rate of genetic characterization of early onset enteropathies over a 40-year period. During the study, blood samples and other biological materials are collected from patients and their relatives. Researchers monitor genetic markers and phenotypes to improve understanding of the disease. The study involves long-term follow-up with a primary outcome of increasing genetic characterization rates. Participation involves biological sampling and data collection without treatment interventions.

Characterization of Phenotype and Genotype of Early Onset Enteropathies