Molecular Signatures of Esophageal Atresia

Status Recruiting

Clinical Trial Summary

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.

Clinical Trial Description

n/a

Study Design

Related Conditions & MeSH terms

Esophageal Atresia

Clinical Trial Details

NCT number	NCT06073158
Study type	Interventional
Source	University Hospital, Lille
Contact	Mélanie Leroy, PhD
Phone	+33625372349
Email	melanie.leroy@chu-lille.fr
Status	Recruiting
Phase	N/A
Start date	June 23, 2023
Completion date	June 23, 2024

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