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Molecular Signatures of Esophageal Atresia

NCT ID: NCT06073158

Last Updated: 2025-12-26

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

6 participants

Study Classification

INTERVENTIONAL

Study Start Date

2023-09-01

Study Completion Date

2024-03-04

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.

Detailed Description

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Conditions

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Esophageal Atresia

Keywords

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esophageal atresia epigenetic proteomics metabolomics

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

BASIC_SCIENCE

Blinding Strategy

SINGLE

Outcome Assessors

Study Groups

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Anastomosis group

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

Group Type OTHER

Esophageal biopsy collection during anastomosis

Intervention Type PROCEDURE

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

Control group

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

Group Type NO_INTERVENTION

No interventions assigned to this group

Interventions

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Esophageal biopsy collection during anastomosis

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

Intervention Type PROCEDURE

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
Minimum Eligible Age

1 Day

Maximum Eligible Age

1 Year

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University Hospital, Lille

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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CHU Lille

Lille, , France

Site Status

Countries

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France

Other Identifiers

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ANR

Identifier Type: OTHER_GRANT

Identifier Source: secondary_id

2022-055

Identifier Type: -

Identifier Source: org_study_id