Molecular Signatures of Esophageal Atresia

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.

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Key information

Conditions

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

Age range

1 day–1 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

CHU Lille

Lille, 59007, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Esophageal biopsy collection during anastomosis

Procedure

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

Primary outcomes

Comparison of the mRNA expression from esophageal biopsies between long and short term storage

Time frame: 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

Time frame: 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]

Sponsors and collaborators

Lead sponsor

University Hospital, Lille

Other

Registry information

Official study title

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

Important dates

Study start: 2023
Primary completion: 2024
Study completion: 2024
First posted: Oct 10, 2023
Registry last updated: Apr 22, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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Completed