National Data Archive
Data Catalog
  • Home
  • Microdata Catalog
  • Citations
  • Login
    Login
    Home / Central Data Catalog / FRESH-PEF74150-EN
central

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
Mar 11, 2026
Last modified
Mar 11, 2026
Page views
4
  • Study Description
  • Get Microdata
  • Identification
  • Scope
  • Coverage
  • Producers and sponsors
  • Sampling
  • Survey instrument
  • Data collection
  • Study activities
  • Quality standards
  • Data Access
  • Contacts
  • Metadata production
  • 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','Participant-reported health data','Biological 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": "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": "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": "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

    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
    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

    Metadata production

    DDI Document ID

    FRESH-PEF74150-en

    Producers
    Name Affiliation
    Sonia GUEGUEN SORBONNE UNIVERSITE
    Back to Catalog
    National Data Archive

    © National Data Archive, All Rights Reserved.