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Cohort of Patients with Alport Syndrome

France
Reference ID
FRESH-PEF32159-en
Producer(s)
Laurence;HEIDET
Metadata
DDI/XML JSON
Study website Interactive tools
Created on
Feb 18, 2026
Last modified
Feb 18, 2026
Page views
33
  • Identification
  • Scope
  • Coverage
  • Producers and sponsors
  • Study authorization
  • Sampling
  • Survey instrument
  • Data collection
  • Study activities
  • Data Access
  • Contacts

    • Identification

    Survey ID number

    FRESH-PEF32159-en
    Title

    Cohort of Patients with Alport Syndrome
    Country
    Name Country code
    France fr
    Kind of Data

    ['Clinical data','Biological data']
    Unit of Analysis

    Individuals

    Scope

    Topics
    Topic Vocabulary
    Syndromic genetic deafness cim-11
    Biological determinants: Genetic predisposition health determinant
    Biological determinants health determinant
    Keywords
    Alport syndrome hereditary disease rare disease

    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 with Alport syndrome.","clusion_E":""}

    Producers and sponsors

    Primary investigators
    Name
    Laurence;HEIDET
    Producers
    Name Role
    ASSO SOCIETE FRANCAISE DE NEPHROLOGIE sponsor
    sponsor
    Other Identifications/Acknowledgments
    Name
    Under the RADICO (Rare Disease Cohorts) programme, the RaDiCo-EURBIO-Alport will be implemented to expand the Alport syndrome database across Europe.

    Study authorization

    Agency
    Agency name
    CNIL
    CPP

    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

    Mode of data collection
    • {"concept":{"vocabURI":"Transcription","vocab":"CESSDA"},"value":"Converting or copying information into a structured record"}
    • {"concept":{"vocabURI":"Interview","vocab":"CESSDA"},"value":"Interview with the participant (including clinical)"}

    Study activities

    Study activities
    Type
    primary evaluation
    Description
    Health event/morbidity

    Data Access

    Access conditions

    Contact the principal investigator
    Availability Status

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

    Contacts

    Contacts
    Name Email
    Laurence;HEIDET laurence.heidet@aphp.fr
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