Molecular Signatures of Esophageal Atresia
NCT06073158 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 6
Last updated 2026-04-22
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
- PROCEDURE
-
Esophageal biopsy collection during anastomosis
During the anastomosis, the surgeon will collect an esophageal mucosa biopsy
Sponsors & Collaborators
-
University Hospital, Lille
lead OTHER
Study Design
- Allocation
- NON_RANDOMIZED
- Purpose
- BASIC_SCIENCE
- Masking
- SINGLE
- Model
- PARALLEL
Eligibility
- Min Age
- 1 Day
- Max Age
- 1 Year
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2023-09-01
- Primary Completion
- 2024-03-04
- Completion
- 2024-03-04
Countries
- France
Study Locations
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