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Observatory of Patients with laminopathies and emerinopathies

France, 2013 - 3000
Reference ID
FRESH-PEF5054-en
Producer(s)
Karim;WAHBI, Gisèle;BONNE
Metadata
DDI/XML JSON
Study website Interactive tools
Created on
Feb 18, 2026
Last modified
May 27, 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-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','Paraclinical data (non-biological)','Paraclinical data (non-biological) : Imaging','Paraclinical data (non-biological) : Other','Biological data','Socio-demographic data']
    Unit of Analysis

    Individuals

    Scope

    Topics
    Topic Vocabulary
    Cardiology and vascular medicine health theme
    Endocrinology 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":"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 patient carrying a LMNA or a EMD gene mutation, including the paediatric population, registered to Social Security Helathcare System.","clusion_E":""}

    Producers and sponsors

    Primary investigators
    Name
    Karim;WAHBI
    Gisèle;BONNE
    Producers
    Name Role
    INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM) sponsor
    ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP) sponsor
    ASSOCIATION INSTITUT DE MYOLOGIE (AIM) sponsor
    Funding Agency/Sponsor
    Name
    ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)
    ASSOCIATION INSTITUT DE MYOLOGIE (AIM)
    INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)
    Other Identifications/Acknowledgments
    Name
    French Network of Emery-Dreifuss muscular dystrophy and other nuclear envelope diseases

    Study authorization

    Agency
    Agency name
    CNIL
    ANSM
    CPP
    CESREES
    Other

    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
    2013-01-01 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

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