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The French Gaucher disease registry

France, 1991 - 3000
Reference ID
FRESH-PEF56-en
Producer(s)
Nadia;BELMATOUG, Jérôme;STIRNEMANN
Metadata
DDI/XML JSON
Study website Interactive tools
Created on
Feb 18, 2026
Last modified
Feb 18, 2026
Page views
53
  • Identification
  • Scope
  • Coverage
  • Producers and sponsors
  • Study authorization
  • Sampling
  • Survey instrument
  • Data collection
  • Study activities
  • Data Access
  • Contacts

    • Identification

    Survey ID number

    FRESH-PEF56-en
    Title

    The French Gaucher disease registry
    Abbreviation or Acronym

    FGDR
    Country
    Name Country code
    France fr
    Kind of Data

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

    Individuals

    Scope

    Topics
    Topic Vocabulary
    Hematology health theme
    Internal medicine health theme
    Rheumatology health theme
    Sphingolipidosis cim-11
    Biological determinants: Genetic predisposition health determinant
    Biological determinants health determinant
    Keywords
    pharmacoeconomics

    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":"Infant, Newborn (birth to 28 days)","concept":{"vocab":"MeSH","vocabURI":"D007231"}},{"value":"Infant (28 days to 2 years)","concept":{"vocab":"MeSH","vocabURI":"D007223"}},{"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"}},{"value":"Young Adult (19 to 24 years)","concept":{"vocab":"MeSH","vocabURI":"D055815"}},{"value":"Adult (25 to 44 years)","concept":{"vocab":"MeSH","vocabURI":"D000328"}},{"value":"Middle Aged (45 to 64 years)","concept":{"vocab":"MeSH","vocabURI":"D008875"}},{"value":"Aged (65 to 79 years)","concept":{"vocab":"MeSH","vocabURI":"D000368"}},{"value":"Aged, 80 and over (80 years and more)","concept":{"vocab":"MeSH","vocabURI":"D000369"}}],"level_type_clusion_I":"Patients population","level_type_clusion_other":"","clusion_I":"All of the patients diagnosed and/or followed for Gaucher's disease over all of France. Gaucher's disease is confirmed by the dosage of the enzyme activity of the glucocerebrosidase.","clusion_E":""}

    Producers and sponsors

    Primary investigators
    Name
    Nadia;BELMATOUG
    Jérôme;STIRNEMANN
    Producers
    Name Role
    ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP) sponsor
    Funding Agency/Sponsor
    Name
    ASSOC VAINCRE LES MALADIES LYSOSOMALES (VML)
    INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)
    SANTE PUBLIQUE FRANCE

    Study authorization

    Agency
    Agency name
    CNIL

    Sampling

    Sample frame

    Unit Type

    ['']
    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
    1991-01-01 3000-01-01
    Mode of data collection
    • {"concept":{"vocabURI":"Other","vocab":"CESSDA"},"value":"Other"}

    Study activities

    Study activities
    Type
    primary evaluation
    Description
    Health event/morbidity Health event/mortality Health care consumption and services

    Data Access

    Access conditions

    Access subject to authorization from the scientific board of the registry, formed by the members of the Evaluation Committee of the Treatment for Gaucher's disease
    Availability Status

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

    Contacts

    Contacts
    Name Email
    Nadia;BELMATOUG nadia.belmatoug@aphp.fr
    Jérôme;STIRNEMANN jerome.stirnemann@hug.ch
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