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

France, 2017 - 3000
Reference ID
FRESH-PEF74146-draft-en
Producer(s)
Thierry;BILLETTE DE VILLEMEUR
Metadata
DDI/XML JSON
Study website Interactive tools
Created on
Sep 10, 2026
Last modified
Sep 14, 2026
Page views
6
  • Study Description
  • Get Microdata
  • 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-draft-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','Biological data','Participant-reported health data']

    Unit of Analysis

    Individus

    Scope

    Topics
    Topic Vocabulary
    Mucopolysaccharidosis cim-11

    Coverage

    Universe

    {
    "level_sex_clusion_I": [
    {
    "concept": {
    "vocab": "MeSH",
    "vocabURI": "D005260"
    },
    "value": "Female"
    },
    {
    "concept": {
    "vocab": "MeSH",
    "vocabURI": "D008297"
    },
    "value": "Male"
    }
    ],
    "level_age_clusion_I": [
    {
    "concept": {
    "vocab": "MeSH",
    "vocabURI": "D007231"
    },
    "value": "Infant, Newborn (birth to 28 days)"
    },
    {
    "concept": {
    "vocab": "MeSH",
    "vocabURI": "D007223"
    },
    "value": "Infant (28 days to 2 years)"
    },
    {
    "concept": {
    "vocab": "MeSH",
    "vocabURI": "D002675"
    },
    "value": "Child, Preschool (2 to 5 years)"
    },
    {
    "concept": {
    "vocab": "MeSH",
    "vocabURI": "D002648"
    },
    "value": "Child (6 to 12 years)"
    },
    {
    "concept": {
    "vocab": "MeSH",
    "vocabURI": "D055815"
    },
    "value": "Young Adult (19 to 24 years)"
    },
    {
    "concept": {
    "vocab": "MeSH",
    "vocabURI": "D000328"
    },
    "value": "Adult (25 to 44 years)"
    },
    {
    "concept": {
    "vocab": "MeSH",
    "vocabURI": "D008875"
    },
    "value": "Middle Aged (45 to 64 years)"
    }
    ],
    "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
    Other Identifications/Acknowledgments
    Name
    ;

    Study authorization

    Agency
    Agency name
    CPP
    CESREES

    Sampling

    Sample frame

    Unit Type

    ['Through organizations (health services or institutions, schools, businesses, etc.)']

    Sampling Procedure

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

    Study activities

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

    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

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

    Metadata production

    DDI Document ID

    FRESH-PEF74146-draft-en

    Producers
    Name Affiliation
    Elodie Mercier INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)
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