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RaDiCo-MPS - Mucopolysaccharidosis patients in France in the era of specific therapeutics

France, 2017 - 3000
Reference ID
FRESH-PEF74146-en
Producer(s)
Thierry;BILLETTE DE VILLEMEUR
Metadata
DDI/XML JSON
Study website Interactive tools
Created on
Aug 31, 2026
Last modified
Sep 11, 2026
Page views
6
  • Identification
  • Scope
  • Coverage
  • Producers and sponsors
  • Study authorization
  • Sampling
  • Survey instrument
  • Data collection
  • Study activities
  • Quality standards
  • Data Access
  • Metadata production

    • Identification

    Survey ID number

    FRESH-PEF74146-en
    Title

    RaDiCo-MPS - Mucopolysaccharidosis patients in France in the era of specific therapeutics
    Abbreviation or Acronym

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

    ['Clinical data','Paraclinical data (non-biological)','Paraclinical data (non-biological) : Imaging','Paraclinical data (non-biological) : Function testing','Biological data','Participant-reported health data']
    Unit of Analysis

    Individuals

    Scope

    Topics
    Topic Vocabulary
    Mucopolysaccharidosis 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"}}],"level_type_clusion_I":"Patients population","level_type_clusion_other":"","clusion_I":"The RaDiCo-MPS Cohort inclusion criteria are the following: • Confirmed diagnosis of MPS based on clinically relevant enzyme deficiency, with abnormally elevated GAG urinary excretion and/or identification of pathogenic mutations. • Signed informed consent or parents/guardian non-opposition for deceased patients (minor or protected major)","clusion_E":"There are no non-inclusion criteria."}

    Producers and sponsors

    Primary investigators
    Name
    Thierry;BILLETTE DE VILLEMEUR
    Producers
    Name Role
    INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM) sponsor

    Study authorization

    Agency
    Agency name
    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 3000-01-01
    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

    Requests for access to RaDiCo-MPS data (aggregated or individual) will be considered by the Scientific Committee following the submission of a summary of a specific research project, as defined in the Charter of access to resources.
    Availability Status

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

    Metadata production

    DDI Document ID

    FRESH-PEF74146-en
    Producers
    Name
    ibtihel impactgroup
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