Molecular Signatures of Esophageal Atresia

Not Applicable

Recruiting

• Conditions: Esophageal Atresia
• Interventions: Procedure: Esophageal biopsy collection during anastomosis

• Registration Number: NCT06073158
• Lead Sponsor: University Hospital, Lille

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2023-06-23
• Study First Submitted: 2023-06-26
• Status Verified: 2023-07
• Study First Submitted QC: 2023-10-03
• Study First Posted: 2023-10-10
• Last Update Submitted: 2023-10-12
• Last Update Posted: 2023-10-16
• Primary Completion: 2024-06-23
• Study Completion: 2024-06-23

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 20

Inclusion Criteria

• Anastomosis group :

Born with esophageal atresia Anastomosis performed in Lille hospital Parents consent

• Control group : Born with esophageal atresia

Exclusion Criteria

• Both groups :

Parents refusing to participate in the study

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
Anastomosis group	Esophageal biopsy collection during anastomosis	Esophageal biopsies collected during the anastomosis for the patient with esophageal atresia

Primary Outcome Measures

Name	Time	Method
Comparison of the mRNA expression from esophageal biopsies between long and short term storage	The biopsies will be collected during the first year of life	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.\[exploratory and untargeted analysis\]
Comparison of the metabolites identification from esophageal biopsies between long and short term storage	The biopsies will be collected during the first year of life	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. \[exploratory and untargeted analysis\]

Trial Locations

Locations (1)

CHU Lille; 🇫🇷 Lille, France