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French Registry for Pompe Disease (Certified Registry)

France, 2004 - 3000
Reference ID
FRESH-PEF2589-en
Producer(s)
Pascal;LAFORET
Metadata
DDI/XML JSON
Study website Interactive tools
Created on
Feb 18, 2026
Last modified
Feb 18, 2026
Page views
36
  • Identification
  • Scope
  • Coverage
  • Producers and sponsors
  • Study authorization
  • Sampling
  • Survey instrument
  • Data collection
  • Study activities
  • Data Access
  • Contacts

    • Identification

    Survey ID number

    FRESH-PEF2589-en
    Title

    French Registry for Pompe Disease (Certified Registry)
    Country
    Name Country code
    France fr
    Kind of Data

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

    Individuals

    Scope

    Topics
    Topic Vocabulary
    Endocrinology health theme
    Neurology health theme
    Healthcare system determinants: Use of care health determinant
    Healthcare system determinants health determinant
    Keywords
    assessment tolerance efficacy

    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":"Patients are only included in the registry when the diagnosis of Pompe disease is confirmed by biochemical (detection of acid alpha-glucosidase deficiency in the blood, muscle or fibroblasts) and/or genetic analysis.","clusion_E":""}

    Producers and sponsors

    Primary investigators
    Name
    Pascal;LAFORET
    Producers
    Name Role
    ASSOCIATION INSTITUT DE MYOLOGIE (AIM) sponsor
    Funding Agency/Sponsor
    Name
    ASS FRANCAISE CONTRE LES MYOPATHIES (AFM)
    INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)
    SANOFI (FRANCE)
    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
    2004-01-01 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 Health care consumption and services

    Data Access

    Availability Status

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

    Database hosted on a 4D server with access by request. Secure internet access under construction.

    Contacts

    Contacts
    Name Email
    Pascal;LAFORET pascal.laforet@aphp.fr
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