Home / Central Data Catalog / FRESH-PEF73382-EN
central

National cohort on imprinting disorders and their metabolic consequences

France, 2017 - 2032
Reference ID
FRESH-PEF73382-en
Producer(s)
Irène;NETCHINE, Agnès;LINGLART
Metadata
DDI/XML JSON
Study website Interactive tools
Created on
Feb 18, 2026
Last modified
Sep 23, 2026
Page views
39
  • Identification
  • Scope
  • Coverage
  • Producers and sponsors
  • Study authorization
  • Sampling
  • Survey instrument
  • Data collection
  • Study activities
  • Quality standards
  • Data Access

    • Identification

    Survey ID number

    FRESH-PEF73382-en
    Title

    National cohort on imprinting disorders and their metabolic consequences
    Abbreviation or Acronym

    RaDiCo-IDMet
    Country
    Name Country code
    France fr
    Kind of Data

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

    Individuals

    Scope

    Topics
    Topic Vocabulary
    Endocrinology health theme
    Neurology health theme
    Paediatrics health theme
    Psychiatry health theme
    Overgrowth syndromes cim-11
    Prader-Willi syndrome cim-11
    Angelman syndrome cim-11
    Syndromes with multiple structural anomalies, not of environmental origin cim-11
    Pseudohypoparathyroidism cim-11
    Transient neonatal diabetes mellitus 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":"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 (adults and children) affected with an ID regardless of the severity of the disease, - with a confirmed diagnosis of ID (based on molecular diagnosis) - with a signed informed consent for adults or signed informed consent of parents/guardians of minors/protected adult. ","clusion_E":"There are no non-inclusion criteria."}

    Producers and sponsors

    Primary investigators
    Name
    Irène;NETCHINE
    Agnès;LINGLART
    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 diseases health networks FIRENDO and OSCAR / ENDO - European Reference Network (ERN)

    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 2032-01-01
    Mode of data collection
    • {"concept":{"vocabURI":"Interview","vocab":"CESSDA"},"value":"Interview with the participant (including clinical)"}
    • {"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

    Quality standards
    Standard
    ['Drug dictionary (DCIs)']
    Other quality statement

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

    Data Access

    Access conditions

    Access requests to RaDiCo-IDMet data (rough / structured), biocollections or to analytic reports will be examined by the scientific committee following submission of a Specific Research Project (SRP) synopsis, as defined in the Resource Access Charter. Must be sent to idmet@radico.fr
    Availability Status

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