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Observatory of Patients with laminopathies and emerinopathies

France, 2013
Reference ID
FRESH-PEF5054-en
Producer(s)
Gisèle;BONNE, Karim;WAHBI
Metadata
DDI/XML JSON
Created on
Dec 18, 2025
Last modified
Dec 18, 2025
Page views
2
  • Identification
  • Scope
  • Coverage
  • Producers and sponsors
  • Sampling
  • Survey instrument
  • Data collection
  • Study activities
  • Data Access
  • Contacts
  • Metadata production

    • Identification

    Survey ID number

    FRESH-PEF5054-en
    Title

    Observatory of Patients with laminopathies and emerinopathies
    Abbreviation or Acronym

    OPALE
    Country
    Name Country code
    France fr
    Kind of Data

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

    Individuals

    Scope

    Topics
    Topic Vocabulary
    Cardiology and vascular medicine health theme
    Endocrinologie health theme
    Neurology health theme
    Paediatrics health theme
    Primary disorders of muscles cim-11
    Metabolic disorders cim-11
    Cardiomyopathy cim-11
    Biological determinants: Genetic predisposition health determinant
    Biological determinants health determinant
    Keywords
    Natural history muscular cardiac orthopaedic and metabolic involvements joint contractures cardiomyopathies premature aging progeria respiratory myopathies lipodystrophies

    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
    Gisèle;BONNE
    Karim;WAHBI
    Producers
    Name
    ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)
    INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)
    Funding Agency/Sponsor
    Name
    INSTITUT CURIE
    ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)
    INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)

    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
    2013-01-01
    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

    data access to investigators
    Availability Status

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

    Contacts

    Contacts
    Name Email
    Gisèle;BONNE g.bonne@institut-myologie.org
    Karim;WAHBI karim.wahbi@aphp.fr
    Rabah;BEN YAOU r.benyaou@institut-myologie.org
    Rabah;BEN YAOU r.benyaou@institut-myologie.org

    Metadata production

    DDI Document ID

    FRESH-PEF5054-en
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