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Long-Term Outcomes of Esophageal Atresia: Transomic Profiles in Adolescence

France, 2024 - 2026
Reference ID
FReSH-43727-en
Producer(s)
Frédéric;GOTTRAND
Metadata
DDI/XML JSON
Study website Interactive tools
Created on
Oct 01, 2026
Last modified
Oct 02, 2026
Page views
32
  • Study Description
  • Get Microdata
  • Identification
  • Scope
  • Coverage
  • Producers and sponsors
  • Study authorization
  • Sampling
  • Survey instrument
  • Data collection
  • Study activities
  • Data Access
  • Contacts
  • Metadata production
  • Identification

    Survey ID number

    FReSH-43727-en

    Title

    Long-Term Outcomes of Esophageal Atresia: Transomic Profiles in Adolescence

    Abbreviation or Acronym

    TransEAsome

    Country
    Name Country code
    France fr
    Abstract

    Esophageal atresia (EA), a congenital malformation of the esophagus present at birth, is characterized by a disruption in the continuity of the esophagus, which ends in a blind pouch. Food or saliva cannot pass into the stomach. It affects an average of 150 births per year in France, making it a rare condition.

    It is therefore necessary to perform surgery to restore continuity of the esophagus. Although this procedure allows the vast majority of children to survive the neonatal period, health problems such as gastroesophageal reflux, difficulty eating, respiratory problems, and growth issues may persist throughout their lives.

    Project Objectives
    The goal of the project is to establish a prospective cohort of 13- and 14-year-old adolescents, nested within the national esophageal atresia registry. In addition to clinical data, a biobank of esophageal mucosal and plasma samples will be established.

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

    Kind of Data

    ['Clinical data','Biological data','Socio-demographic data','Economic data','Other']

    Unit of Analysis

    Individus

    Scope

    Topics
    Topic Vocabulary
    Gastroenterology health theme
    Paediatrics health theme
    Atresia of oesophagus cim-11
    Atresia of oesophagus without fistula cim-11
    Atresia of oesophagus with tracheo-oesophageal fistula cim-11
    Long gap oesophageal atresia cim-11
    Atresia of oesophagus with oesophagobronchial fistula cim-11
    Atresia of oesophagus with fistula between trachea and lower oesophageal pouch cim-11
    Atresia of oesophagus with fistula between trachea and upper oesophageal pouch cim-11
    Atresia of oesophagus with fistula between trachea and oesophageal pouch cim-11
    Socio-demographic and economic determinants health determinant
    Socio-demographic and economic determinants: Gender health determinant
    Socio-demographic and economic determinants: Age health determinant
    Healthcare system determinants health determinant
    Healthcare system determinants: Use of care health determinant
    Behavioral determinants health determinant
    Behavioral determinants: Physical activity health determinant
    Behavioral determinants: Hygiene health determinant
    Biological determinants health determinant
    Biological determinants: Sex health determinant
    Other health determinant
    proteins, methylation, microRNA other determinant
    Keywords
    esophageal atresia pediatrics cohort omic

    Coverage

    Geographic Coverage

    ['Auvergne Rhône-Alpes','Bourgogne Franche-Comté','Bretagne','Centre-Val de Loire','Corse','Grand Est','Guadeloupe','Hauts-de-France','Ile-de-France','La Réunion','Martinique','Normandie','Nouvelle-Aquitaine','Occitanie','Pays de la Loire','Provence - Alpes - Côte d'Azur']

    Universe

    {
    "level_sex_clusion_I": [
    {
    "concept": {
    "vocab": "MeSH",
    "vocabURI": "D005260"
    },
    "value": "Female"
    },
    {
    "concept": {
    "vocab": "MeSH",
    "vocabURI": "D008297"
    },
    "value": "Male"
    }
    ],
    "level_age_clusion_I": [
    {
    "concept": {
    "vocab": "MeSH",
    "vocabURI": ""
    },
    "value": "Prenatal"
    },
    {
    "concept": {
    "vocab": "MeSH",
    "vocabURI": "D007231"
    },
    "value": "Infant, Newborn (birth to 28 days)"
    },
    {
    "concept": {
    "vocab": "MeSH",
    "vocabURI": "D007223"
    },
    "value": "Infant (28 days to 2 years)"
    },
    {
    "concept": {
    "vocab": "MeSH",
    "vocabURI": "D002648"
    },
    "value": "Child (6 to 12 years)"
    },
    {
    "concept": {
    "vocab": "MeSH",
    "vocabURI": "D000293"
    },
    "value": "Adolescent (13 to 18 years)"
    }
    ],
    "level_type_clusion_I": "Patients population",
    "level_type_clusion_other": "",
    "clusion_I": "For the EA group:\r\n- Born with esophageal atresia (EA) in France or in the French overseas departments and territories (DOM\/TOM)\r\n- Esophageal anastomosis performed\r\n- Must be 13 or 14 years old during the recruitment period (2023–2026)\r\n- Enrollment in the Renato Registry\r\n- Patient covered by social security\r\n- A patient willing to comply with all study procedures and to participate for the duration of the study\r\n\r\nFor the blood substudy:\r\n- Upper gastrointestinal endoscopy performed as part of medical care between the ages of 10 and 14, with a biopsy of the esophageal mucosa\r\n- Patient who has provided written consent to participate in the study (or in the ancillary study, if applicable, for the centers in Lille, Paris Necker, Paris Robert Debré, Lyon, Marseille, and Grenoble)\r\n\r\n\r\nFor the control group:\r\n- Upper gastrointestinal endoscopy performed between the ages of 10 and 14, with a biopsy of the esophageal mucosa\r\n- Upper gastrointestinal endoscopy performed as part of the management of chronic or acute gastrointestinal symptoms to rule out an organic cause (peptic esophagitis, gastric esophagitis, eosinophilic esophagitis or ulcer)\r\n- Normal endoscopy and histology\r\n- No concurrent progressive chronic disease",
    "clusion_E": "Exclusion Criteria\r\n\r\nFor the EA group:\r\n- Concurrent participation in an interventional trial as well as within 3\r\nthe month prior to inclusion\r\n- Parents who refuse to participate in the study\r\n\r\nFor the control group:\r\n- Esophageal biopsy with histologically abnormal findings\r\n- Parents who refuse to participate in the study\r\n- Child with a known organic condition"
    }

    Producers and sponsors

    Primary investigators
    Name
    Frédéric;GOTTRAND
    Producers
    Name Role
    CENTRE HOSPITALIER UNIVERSITAIRE DE LILLE (CHU) sponsor
    Funding Agency/Sponsor
    Name
    AGENCE NATIONALE DE LA RECHERCHE (ANR)
    Other Identifications/Acknowledgments
    Name
    Martin;FIGEAC
    UNIVERSITE DE LILLE
    Michel;SALZET
    INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)
    Jimmy;VANDEL
    UNIVERSITE DE LILLE
    Régis;HANKARD
    CENTRE HOSPITALIER UNIVERSITAIRE D ORLEANS (CHUO)
    the CRACMO network

    Study authorization

    Agency
    Agency name
    CNIL
    CPP

    Sampling

    Sample frame

    Unit Type

    ['Disease and death registry']

    Sampling Procedure

    ['{"concept":{"vocab":"CESSDA","vocabURI":"TotalUniverseCompleteEnumeration"},"value":"Complete enumeration (including consecutive recruitment)"}']

    Survey instrument

    Methodology notes

    Observational Study

    Data collection

    Dates of Data Collection
    Start End
    2024-08-30 2026-10-10
    Time Method

    Other

    Frequency of Data Collection

    Once

    Mode of data collection
    • {"concept":{"vocab":"CESSDA","vocabURI":"Interview"},"value":"Interview with the participant (including clinical)"}
    • {"concept":{"vocab":"CESSDA","vocabURI":"MeasurementsAndTests"},"value":"Measurements and tests"}
    • {"concept":{"vocab":"CESSDA","vocabURI":"MeasurementsAndTests.Physical"},"value":"Physical/biological measurements (blood pressure, weight, biochemistry, imaging, etc.)"}
    • {"concept":{"vocab":"CESSDA","vocabURI":"MeasurementsAndTests.Psychological"},"value":"Psychological tests/clinical scales (depression, cognition, quality of life, etc.)"}
    • {"concept":{"vocab":"CESSDA","vocabURI":"Observation"},"value":"Observation (clinical or behavioural)"}
    • {"concept":{"vocab":"CESSDA","vocabURI":"SelfAdministeredQuestionnaire"},"value":"Self-administered questionnaire"}

    Study activities

    Study activities
    Study activities
    Type
    primary evaluation
    Description
    GERD will be suspected in the presence of suggestive symptoms such as regurgitation and heartburn. The diagnosis will be confirmed if, within the year prior to the visit, a pH/impedance study reveals pathological GERD and/or if lesions of peptic esophagitis are observed during endoscopy, or if the child has a history of complicated GERD that led to anti-reflux surgery. GERD will be considered absent in the absence of clinical signs of GERD (regurgitation, heartburn) and if the most recent pH/impedance monitoring performed without treatment as part of follow-up does not reveal pathological GERD.
    Study activities
    Type
    secondary evaluation
    Description
    Assignment No. 1: Variable to be explained (dependent variable): the prevalence of GERD at ages 13–14 Explanatory (independent) variables: These will be identified from the patients’ characteristics at birth, at 1 year, 6 years, and 13–14 years of age (prenatal data, vital signs, presence of associated malformations, type of atresia, surgical procedures performed, surgical/gastrointestinal/respiratory/neuroorthopedic complications, feeding method, and educational attainment). OS No. 2: - The quality of life of adolescent patients will be assessed by administering the following quality-of-life scales when the patients are 13–14 years old: PedsQL and EA-QoL, to be completed by both the patient and a parent. The scale scores will be calculated in accordance with the authors’ administration guidelines. - Nutritional status will be assessed based on weight and height, as well as by calculating the weight-for-height z-score and BMI z-score, using the World Health Organization’s growth charts as a reference. - Frequency of respiratory complications, as assessed during the clinical examination (hoarse cough during infections, chronic cough, asthma, exercise-induced symptoms [cough, dyspnea], atopy, wheezing, and/or stridor). OS No. 3 Measured variables: transcripts, metabolites, proteins, and methylation Variables to be explained (dependent variables): EA diagnosis (yes/no) The affected metabolic pathways will be identified through enrichment analysis based on the markers that are dysregulated between the group with EA and the group without EA. OS No. 4: Measured variables: transcripts, metabolites, proteins, and methylation Analysis of the difference in means between the levels of the measured variables at different time points OS No. 5: Variables measured in plasma: expression levels of microRNAs or proteins Variables measured in esophageal biopsies: expression levels of microRNAs or proteins. The statistical unit will be the omic variable (microRNA or protein), and the correlation will be calculated between the measurements in plasma and the corresponding measurements in the biopsies.

    Data Access

    Access authority
    Name Email
    Mélanie;LEROY melanie.leroy@chu-lille.fr
    Availability Status

    {"extLink":{"title":"COAR","uri":""},"value":"To be defined"}

    Contacts

    Contacts
    Name Email
    Mélanie;LEROY melanie.leroy@chu-lille.fr
    Martin;FIGEAC martin.figeac@univ-lille.fr
    Michel;SALZET michel.salzet@inserm.fr
    Jimmy;VANDEL jimmy.vandel@univ-lille.fr
    Régis;HANKARD regis.hankard@chu-orleans.fr

    Metadata production

    DDI Document ID

    FReSH-43727-en

    Producers
    Name
    Mélanie LEROY
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