TransEAsome

Long term outcome of esophageal atresia: transomics profiles in adolescence

Esophageal atresia (EA), a malformation of the esophagus present at birth, is characterized by the interruption of the continuity of the esophagus, which then terminates in a blind pouch. Food or saliva cannot be carried into the stomach. It affects an average of 150 births per year in France, making it a rare disease.

Surgery is necessary to reconnect the esophagus. Although this intervention allows the vast majority of children to survive the neonatal period, health problems such as gastroesophageal reflux, difficulty eating, respiratory issues, as well as growth problems may persist throughout life

Project objectives

The objective of the project is to create a prospective cohort of adolescents aged 13/14 years, nested within the national registry of esophageal atresia (EA). In addition to clinical data, a biobank of esophageal mucosa and plasma samples will be established.

Once the clinical data has been collected and omics data (derived from the analysis of biological samples from the biobank) generated, they will be analyzed by project partners to assess the long-term outcomes of EA and to establish multi-omics profiles.

Key elements

  • Project Duration: Spanning from 2022 to 2028, allowing for a comprehensive longitudinal study.
  • Largest Adolescent Cohort with Esophageal Atresia: Aimed at assembling the largest group of adolescents with esophageal atresia worldwide, enhancing the study's statistical power and generalizability.
  • First Large-scale Omics Analysis in this Population
  • Co-creation with Patients and Parents: Collaborating with individuals born with esophageal atresia as well as their parents in designing the project, ensuring their perspectives and experiences are integrated into the research process.

Participating centers

Gouvernance

  • Steering committee

    It is composed of a cross-functional team responsible for monitoring and ensuring the smooth progress of the project. It consists of:

    • Professor Frédéric Gottrand, pediatric gastroenterologist at CHU Lille
    • Dr. Mélanie Leroy, project manager at CHU de Lille
    • A representative from the research management team at CHU de Lille
    • A representative from the data management team at CHU de Lille
    • A representative from the biological resource center at CHU de Lille
    • A representative from the biostatistics team at CHU de Lille
    • A representative from the medical team caring for patients with esophageal atresia at CHU de Lille
    • A representative from partner PRISM
    • A representative from partner Go@L
    • A representative from partner Bilille
    • A representative from partner PedStart
    • A representative from AFAO
  • Scientific advisory board

    It exercises an advisory role on academic strategy, in connection with its international scientific expertise. It consists of:

    • Professor Frédéric Gottrand, pediatric gastroenterologist at CHU Lille
    • Dr. Mélanie Leroy, project manager TransEAsome
    • Professor Usha Krishnan, pediatric gastroenterologist in Sydney
    • Professor Arnaud Droit, director of the bioinformatics platform in Québec
    • Professor Simon Eaton, researcher in pediatric surgery and metabolic biochemistry in London
  • Parents' committee

    Recruited from within the AFAO (Association Française de l'Atrésie de l'Œsophage), these are parents of children born with EA, who are willing volunteers actively participating in various stages of the project's development and implementation.

  • Patients' committee

    X

  • Teenagers expert in clinical research committee

    X

Data availability

The raw data is not yet accessible but will be made available on the France Cohortes platform

This work received support from the Agence Nationale de la Recherche as part of France 2030 program under reference ANR-21-PMRB-0011, as well as funding from the IRCEM Foundation.

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