Molecular Signatures of Esophageal Atresia

NCT06073158 | Completed

• 2 other identifiers: 2022-055ANR
• Study Type: interventional
• Target: 6
• Locations: 1 country
• Sites: 1

Brief 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

Keywords

esophageal atresia; epigenetic; proteomics; metabolomics

Outcome Measures

Primary Outcomes (2)

• 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.\[exploratory and untargeted analysis\]

  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. \[exploratory and untargeted analysis\]

  The biopsies will be collected during the first year of life

Study Arms (2)

Anastomosis group

OTHER

Esophageal biopsies collected during the anastomosis for the patient with esophageal atresia

Procedure: Esophageal biopsy collection during anastomosis

Control group

NO INTERVENTION

Esophageal biopsies collected during a standard care endoscopy for patient with esophageal atresia during the first year of life

Interventions

Esophageal biopsy collection during anastomosis PROCEDURE

During the anastomosis, the surgeon will collect an esophageal mucosa biopsy

Anastomosis group

Eligibility Criteria

• Age: 1 Day - 1 Year
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• Anastomosis group :
• Born with esophageal atresia Anastomosis performed in Lille hospital Parents consent
• \- Control group : Born with esophageal atresia

You may not qualify if:

• Both groups :
• Parents refusing to participate in the study

Sponsors & Collaborators

• University Hospital, Lille: lead

Study Sites (1)

CHU Lille

Lille, 59007, France

Location

MeSH Terms

Conditions

Esophageal Atresia

Condition Hierarchy (Ancestors)

Digestive System Abnormalities; Digestive System Diseases; Esophageal Diseases; Gastrointestinal Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: SINGLE
• Who Masked: OUTCOMES ASSESSOR
• Purpose: BASIC SCIENCE
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 26, 2023
• First Posted: October 10, 2023
• Study Start: September 1, 2023
• Primary Completion: March 4, 2024
• Study Completion: March 4, 2024
• Last Updated: April 22, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)