Molecular Signatures of Esophageal Atresia

University Hospital, Lille

Status: Completed

Conditions: Esophageal Atresia

Treatments: Procedure: Esophageal biopsy collection during anastomosis

Study type: Interventional

Funder types: Other

Identifiers

NCT06073158

2022-055

ANR (Other Grant/Funding Number)

Details and patient eligibility

About

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.

Enrollment: 6 patients

Sex: All

Ages: 1 day to 1 year old

Volunteers: No 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

Trial design

Primary purpose: Basic Science

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: Single Blind

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6 participants in 2 patient groups

Anastomosis group

Other group

Description:

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

Treatment:

Procedure: Esophageal biopsy collection during anastomosis

Control group

No Intervention group

Description:

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