Molecular Signatures of Esophageal Atresia

Esophageal Atresia Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT06073158
• Other study ID #: 2022-055
• Secondary ID: ANR
• Status: Recruiting
• Phase: N/A
• Start date: June 23, 2023
• Est. completion date: June 23, 2024

Study information

• Verified date: July 2023
• Source: University Hospital, Lille
• Contact: Mélanie Leroy, PhD
• Phone: +33625372349
• Email: melanie.leroy[@]chu-lille.fr
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 20
• Est. completion date: June 23, 2024
• Est. primary completion date: June 23, 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 1 Day to 1 Year

Eligibility

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

Related Conditions & MeSH terms

• Esophageal Atresia

Intervention

Procedure:
• Esophageal biopsy collection during anastomosis
During the anastomosis, the surgeon will collect an esophageal mucosa biopsy

Locations

Country	Name	City	State
France	CHU Lille	Lille

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Lille

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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