Molecular Signatures of Esophageal Atresia

Study Overview
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Brief Summary
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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.

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

Conditions
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Esophageal Atresia

Intervention / Treatment
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* Procedure: Esophageal biopsy collection during anastomosis


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 1 Day
Maximum Age: 1 Year

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Basic Science
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: Single


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Other: Anastomosis group<br>Esophageal biopsies collected during the anastomosis for the patient with esophageal atresia | Procedure: Esophageal biopsy collection during anastomosis<br>* During the anastomosis, the surgeon will collect an esophageal mucosa biopsy<br>|
| No Intervention: Control group<br>Esophageal biopsies collected during a standard care endoscopy for patient with esophageal atresia during the first year of life | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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esophageal atresia, epigenetic, proteomics, metabolomics