Molecular Signatures of Esophageal Atresia

University Hospital, Lille6 enrolled

Overview

Although several studies have revealed signaling pathways as well as genes potentially involved in the development of esophageal atresia (EA), our understanding of the pathophysiology of EA lags behind improvements in the surgical and clinical care of patients born with this anomaly. However, a causative genetic abnormality can be identified in less than 10% of patients, even using more recent next-generation sequencing techniques. As most cases of EA associated with tracheoesophageal fistula (TOF) are sporadic, and the familial recurrence rate is low (1%), this suggests that epigenetic and environmental factors also contribute to the disease. Further investigations are needed to better understand the mechanisms underlying EA. That information can come from the oesophageal biopsies that are collected in routine care and long-term storage at the hospital. However, the impact of the length of the storage is still unknown.

Study Type

INTERVENTIONAL

Allocation

NON_RANDOMIZED

Purpose

BASIC_SCIENCE

Masking

SINGLE

Enrollment

Conditions

Esophageal Atresia

Interventions

Outcomes

Primary Outcomes

Comparison of the mRNA expression from esophageal biopsies between long and short term storage

Transcriptomic profiles will be generated by the identification of mRNA and miRNA expression by 3'RNA-seq and sRNA-seq technologies. Differential expression between long and short term storage will be performed.\[exploratory and untargeted analysis\]

Time frame: The biopsies will be collected during the first year of life

Comparison of the metabolites identification from esophageal biopsies between long and short term storage

Metabolomic profiles will be generated (untargeted analysis that will include mnulmerous lipids, amino-acids, ...). Differential expression between long and short term storage will be performed. \[exploratory and untargeted analysis\]