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Study of the natural history of Alport Syndrome by establishment of an International database

Sweden, France, 2017 - 2025
Reference ID
FRESH-PEF74150-en
Producer(s)
Laurence;HEIDET, Bertrand;KNELBELMANN
Metadata
DDI/XML JSON
Study website Interactive tools
Created on
Feb 18, 2026
Last modified
Sep 23, 2026
Page views
36
  • Identification
  • Scope
  • Coverage
  • Producers and sponsors
  • Study authorization
  • Sampling
  • Survey instrument
  • Data collection
  • Study activities
  • Quality standards
  • Data Access
  • Contacts

    • Identification

    Survey ID number

    FRESH-PEF74150-en
    Title

    Study of the natural history of Alport Syndrome by establishment of an International database
    Abbreviation or Acronym

    RaDiCo-EURBIO-Alport
    Country
    Name Country code
    Sweden se
    France fr
    Kind of Data

    ['Clinical data','Biological data','Participant-reported health data']
    Unit of Analysis

    Individuals

    Scope

    Topics
    Topic Vocabulary
    Cardiology and vascular medicine health theme
    Ophthalmology health theme
    Otolaryngology health theme
    Paediatrics health theme
    Nephrology health theme
    Syndromic genetic deafness cim-11

    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":"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":"The inclusion criteria are : - Diagnosis of AS based on (i) electron microscopic examination of the renal biopsy and/or (ii) molecular studies and/or (iii) abnormal expression of type IV collagen chains on skin and/or glomerular basement membranes. - Signed informed consent ","clusion_E":"There are no exclusion criteria."}

    Producers and sponsors

    Primary investigators
    Name
    Laurence;HEIDET
    Bertrand;KNELBELMANN
    Producers
    Name Role
    INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM) sponsor
    Funding Agency/Sponsor
    Name
    AGENCE NATIONALE DE LA RECHERCHE (ANR)
    Other Identifications/Acknowledgments
    Name
    Rare Disease Healthcare Pathway (Orkid) / French national reference center for hereditary kidney diseases in children and adults (MARHEA)/ European Reference Network ERK-NET

    Study authorization

    Agency
    Agency name
    CNIL
    CPP
    CESREES

    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
    2017-01-01 2025-01-01
    Mode of data collection
    • {"concept":{"vocabURI":"Transcription","vocab":"CESSDA"},"value":"Converting or copying information into a structured record"}

    Study activities

    Study activities
    Type
    primary evaluation
    Description
    Health event/morbidity Health event/mortality Quality of life/health perception

    Quality standards

    Other quality statement

    ['Data Management Plan and Data Validation Plan. Continuous data management (automatic control rules and queries system).']

    Data Access

    Access conditions

    Requests for access to RaDiCo-EURBIO data (aggregated or individual) will be reviewed by the scientific committee following the submission of a synopsis of a Specific Research Project (PRS), as defined in the Access to Resources Charter.
    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
    Bertrand;KNELBELMANN bertrand.knebelmann@aphp.fr
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