Molecular Signatures of Esophageal Atresia

Sponsor

University Hospital, Lille (Other)

Overall Status

Recruiting

CT.gov ID

NCT06073158

Collaborator

(none)

Enrollment

Location

Arms

Anticipated Duration (Months)

1.7

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Esophageal Atresia	Procedure: Esophageal biopsy collection during anastomosis	N/A

Study Design

Study Type:

Interventional

Anticipated Enrollment :

20 participants

Allocation:

Non-Randomized

Intervention Model:

Parallel Assignment

Masking:

Single (Outcomes Assessor)

Primary Purpose:

Basic Science

Official Title:

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

Actual Study Start Date :

Jun 23, 2023

Anticipated Primary Completion Date :

Jun 23, 2024

Anticipated Study Completion Date :

Jun 23, 2024

Arms and Interventions

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

Arm

Intervention/Treatment

Other: Anastomosis group

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

Procedure: Esophageal biopsy collection during anastomosis

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

No Intervention: Control group

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

Outcome Measures

Primary Outcome Measures

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]

Eligibility Criteria

Criteria

Ages Eligible for Study:

1 Day to 1 Year

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	CHU Lille	Lille		France	59007

Sponsors and Collaborators

University Hospital, Lille

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

University Hospital, Lille

ClinicalTrials.gov Identifier:

NCT06073158

Other Study ID Numbers:

2022-055
ANR

First Posted:

Oct 10, 2023

Last Update Posted:

Oct 16, 2023

Last Verified:

Jul 1, 2023

Individual Participant Data (IPD) Sharing Statement:

Plan to Share IPD:

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Keywords provided by University Hospital, Lille

Additional relevant MeSH terms:

Esophageal Atresia

Study Results

No Results Posted as of Oct 16, 2023