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The French Gaucher disease registry

France, 1991
Reference ID
FRESH-PEF56-en
Producer(s)
Jérôme;STIRNEMANN, Nadia;BELMATOUG
Metadata
DDI/XML JSON
Created on
Dec 15, 2025
Last modified
Dec 15, 2025
Page views
11
  • Identification
  • Scope
  • Coverage
  • Producers and sponsors
  • Sampling
  • Survey instrument
  • Data collection
  • Study activities
  • Data Access
  • Contacts
  • Metadata production

    • 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','Biological data','Socio-demographic data','Paraclinical data (non-biological) : Imaging']
    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": "http:\/\/id.nlm.nih.gov\/mesh\/D008297"
    }
    },
    {
    "value": "Female",
    "concept": {
    "vocab": "MeSH",
    "vocabURI": "http:\/\/id.nlm.nih.gov\/mesh\/D005260"
    }
    }
    ],
    "level_age_clusion_I": [
    {
    "value": "Infant, Newborn (birth to 28 days)",
    "concept": {
    "vocab": "MeSH",
    "vocabURI": "http:\/\/id.nlm.nih.gov\/mesh\/D007231"
    }
    },
    {
    "value": "Infant (28 days to 2 years)",
    "concept": {
    "vocab": "MeSH",
    "vocabURI": "http:\/\/id.nlm.nih.gov\/mesh\/D007223"
    }
    },
    {
    "value": "Child, Preschool (2 to 5 years)",
    "concept": {
    "vocab": "MeSH",
    "vocabURI": "http:\/\/id.nlm.nih.gov\/mesh\/D002675"
    }
    },
    {
    "value": "Child (6 to 12 years)",
    "concept": {
    "vocab": "MeSH",
    "vocabURI": "http:\/\/id.nlm.nih.gov\/mesh\/D002648"
    }
    },
    {
    "value": "Young Adult (19 to 24 years)",
    "concept": {
    "vocab": "MeSH",
    "vocabURI": "http:\/\/id.nlm.nih.gov\/mesh\/D055815"
    }
    },
    {
    "value": "Adult (25 to 44 years)",
    "concept": {
    "vocab": "MeSH",
    "vocabURI": "http:\/\/id.nlm.nih.gov\/mesh\/D000328"
    }
    },
    {
    "value": "Middle Aged (45 to 64 years)",
    "concept": {
    "vocab": "MeSH",
    "vocabURI": "http:\/\/id.nlm.nih.gov\/mesh\/D008875"
    }
    },
    {
    "value": "Aged (65 to 79 years)",
    "concept": {
    "vocab": "MeSH",
    "vocabURI": "http:\/\/id.nlm.nih.gov\/mesh\/D000368"
    }
    },
    {
    "value": "Aged, 80 and over (80 years and more)",
    "concept": {
    "vocab": "MeSH",
    "vocabURI": "http:\/\/id.nlm.nih.gov\/mesh\/D000369"
    }
    }
    ],
    "level_type_clusion_I": "Patients population",
    "level_type_clusion_other": "",
    "clusion_I": "",
    "clusion_E": ""
    }

    Producers and sponsors

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

    Sampling

    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
    1991-01-01
    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
    Jérôme;STIRNEMANN jerome.stirnemann@hug.ch
    Nadia;BELMATOUG nadia.belmatoug@aphp.fr

    Metadata production

    DDI Document ID

    FRESH-PEF56-en
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