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Cohort of Children with Alpha 1 Antitrypsin Deficiency.

France, 2008 - 3000
Reference ID
FRESH-PEF60120-en
Producer(s)
Alain;LACHAUX, Mathias;RUIZ
Metadata
DDI/XML JSON
Study website Interactive tools
Created on
Feb 18, 2026
Last modified
Feb 18, 2026
Page views
41
  • Identification
  • Scope
  • Coverage
  • Producers and sponsors
  • Study authorization
  • Sampling
  • Survey instrument
  • Data collection
  • Study activities
  • Data Access
  • Contacts

    • Identification

    Survey ID number

    FRESH-PEF60120-en
    Title

    Cohort of Children with Alpha 1 Antitrypsin Deficiency.
    Abbreviation or Acronym

    DEFI-ALPHA
    Country
    Name Country code
    France fr
    Kind of Data

    ['Clinical data','Paraclinical data (non-biological)','Paraclinical data (non-biological) : Imaging','Biological data']
    Unit of Analysis

    Individuals

    Scope

    Topics
    Topic Vocabulary
    Hepatology health theme
    Diseases of the digestive system cim-11
    Biological determinants: Genetic predisposition health determinant
    Biological determinants health determinant
    Keywords
    occurrence of complications ultrasound/Doppler ultrasound FibroScan fibrosis test endoscopy and oesophageal video capsule platelets transaminase and gamma-GT Health episodes factors liver transplantation

    Coverage

    Universe

    {"level_sex_clusion_I":[{"value":"Male","concept":{"vocab":"MeSH","vocabURI":"D008297"}},{"value":"Female","concept":{"vocab":"MeSH","vocabURI":"D005260"}}],"level_age_clusion_I":[{"value":"Child, Preschool (2 to 5 years)","concept":{"vocab":"MeSH","vocabURI":"D002675"}},{"value":"Child (6 to 12 years)","concept":{"vocab":"MeSH","vocabURI":"D002648"}},{"value":"Adolescent (13 to 18 years)","concept":{"vocab":"MeSH","vocabURI":"D000293"}}],"level_type_clusion_I":"Patients population","level_type_clusion_other":"","clusion_I":"Children with DA1AT born after 1989, regardless of phenotype. DA1AT is defined as an alpha-1 antitrypsin deficiency lower than 1,1 g/l, and type ZZ or SZ MZ, MS, SS, detected by participating centres (service follow-up, or detected by corresponding neonatal services, family surveys, patient associations or dosage laboratories in the geographical area of participating services).","clusion_E":""}

    Producers and sponsors

    Primary investigators
    Name
    Alain;LACHAUX
    Mathias;RUIZ
    Producers
    Name Role
    HOSPICES CIVILS DE LYON (HCL) sponsor
    Funding Agency/Sponsor
    Name
    LABORATOIRE FRANCAIS DU FRACTIONNEMENT ET DES BIOTECHNOLOGIES (LFB)
    MINISTERE DU TRAVAIL, DE LA SANTE, DES SOLIDARITES ET DES FAMILLES

    Study authorization

    Agency
    Agency name
    CNIL
    CESREES

    Sampling

    Sample frame

    Unit Type

    ['Through organizations (health services or institutions, schools, businesses, etc.)']
    Sampling Procedure

    ['{"concept":{"vocabURI":"Other","vocab":"CESSDA"},"value":"Other"}']

    Survey instrument

    Questionnaires

    Access on specific project only
    Methodology notes

    Observational Study

    Data collection

    Dates of Data Collection
    Start End
    2008-01-01 3000-01-01
    Mode of data collection
    • {"concept":{"vocabURI":"Interview","vocab":"CESSDA"},"value":"Interview with the participant (including clinical)"}

    Study activities

    Study activities
    Type
    primary evaluation
    Description
    Health event/morbidity Health event/mortality

    Data Access

    Access conditions

    To be decided if data may be used by academic teams.
    Availability Status

    {"value":"Restricted access","extLink":[{"title":"COAR","uri":"http://purl.org/coar/access_right/c_16ec"}]}
    Restrictions

    To be decided if data may be used by industrial teams Access for potentially interested LFB laboratories

    Contacts

    Contacts
    Name Email
    Lioara;MIRON-RESTIER lioara.restier@chu-lyon.fr
    Mathias;RUIZ mathias.ruiz@chu-lyon.fr
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