NCT06073158

Molecular Signatures of Esophageal Atresia

Oesomics Anastomose Molecular Signatures of Esophageal Atresia Comparison of Biopsies Taken During the First Year of Life With Those Taken During Anastomosis

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 6 (actual)
• Sponsor: University Hospital, Lille · Academic / Other
• Sex: All
• Age: 1 Day – 1 Year
• Healthy volunteers: Not accepted

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.

Conditions

• Esophageal Atresia

Interventions

Type	Name	Description
PROCEDURE	Esophageal biopsy collection during anastomosis	During the anastomosis, the surgeon will collect an esophageal mucosa biopsy

Timeline

• Start date: 2023-09-01
• Primary completion: 2024-03-04
• Completion: 2024-03-04
• First posted: 2023-10-10
• Last updated: 2025-12-26

Locations

1 site across 1 country: France