{"doc_desc":{"title":"RaDiCo-MPS - Mucopolysaccharidosis patients in France in the era of specific therapeutics","idno":"FRESH-PEF74146-draft-en","producers":[{"name":"Elodie Mercier","affiliation":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF74146-draft-en","IDno":{"metadata_no":[{"agency":"PEF","code":"74146"},{"agency":"FReSH","code":"FRESH-PEF74146"}],"metadata_yes":[{"code":"FReSH","agency":"FReSH"}]},"title":"RaDiCo-MPS - Mucopolysaccharidosis patients in France in the era of specific therapeutics","alternate_title":"RaDiCo-MPS"},"study_authorization":{"agency":[{"name":"CPP"},{"name":"CESREES"}]},"authoring_entity":[{"name":"Thierry;BILLETTE DE VILLEMEUR","firstname":"Thierry","lastname":"BILLETTE DE VILLEMEUR","type":"investigator","extlink":[{"title":"ORCID","uri":"0000-0002-2871-4588","role":"pi id"},{"title":"IdRef","uri":"034282149","role":"pi 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 \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D005260\"\n            },\n            \"value\": \"Female\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D008297\"\n            },\n            \"value\": \"Male\"\n        }\n    ],\n    \"level_age_clusion_I\": [\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D007231\"\n            },\n            \"value\": \"Infant, Newborn (birth to 28 days)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D007223\"\n            },\n            \"value\": \"Infant (28 days to 2 years)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D002675\"\n            },\n            \"value\": \"Child, Preschool (2 to 5 years)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D002648\"\n            },\n            \"value\": \"Child (6 to 12 years)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D055815\"\n            },\n            \"value\": \"Young Adult (19 to 24 years)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D000328\"\n            },\n            \"value\": \"Adult (25 to 44 years)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D008875\"\n            },\n            \"value\": \"Middle Aged (45 to 64 years)\"\n        }\n    ],\n    \"level_type_clusion_I\": \"Patients population\",\n    \"level_type_clusion_other\": \"\",\n    \"clusion_I\": \"The RaDiCo-MPS Cohort inclusion criteria are the following: \u2022 Confirmed diagnosis of MPS based on clinically relevant enzyme deficiency, with abnormally elevated GAG urinary excretion and\\\/or identification of pathogenic mutations. \u2022 Signed informed consent or parents\\\/guardian non-opposition for deceased patients (minor or protected major)\",\n    \"clusion_E\": \"There are no non-inclusion criteria.\"\n}","data_kind":"['Clinical data','Biological data','Participant-reported health data']","quality_statement":{"standards":[{"name":"['Drug dictionary (DCIs)']","committee":"","governance":""}],"other_quality_statement":"['Data Management Plan and Data Validation Plan. Continuous data management (automatic control rules and query system)']"}},"study_development":{"development_activity":[{"activity_type":"primary evaluation","activity_description":"Health event\/morbidity\r\nHealth event\/mortality\r\nQuality of life\/health perception"},{"activity_type":"secondary evaluation","activity_description":""}]},"method":{"data_collection":{"time_method":"","frequency":"","sampling_procedure":"['{\"concept\":{\"vocab\":\"CESSDA\",\"vocabURI\":\"Other\"},\"value\":\"Other\"}']","sample_frame":{"frame_unit":{"unit_type":"['Through organizations (health services or institutions, schools, businesses, etc.)']"}},"coll_mode":["{\"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)\"}"],"research_instrument":"Access on specific project only","sources":[{"sourceCitation":{"titlStmt":{"titl":""},"holdings":"","notes":{"subject":"source purpose","value":""}},"srcOrig":[]}],"target_sample_size":"< 500 individuals","response_rate":""},"method_notes":"Observational Study","study_class":"Unknown","notes":[{"subject":"research type","values":["Observational Study"]},{"subject":"observational study method","values":["Morbidity registry"]}]},"data_access":{"dataset_availability":{"access_place":"","complete":"","status":"{\"extLink\":{\"title\":\"COAR\",\"uri\":\"http:\/\/purl.org\/coar\/access_right\/c_16ec\"},\"value\":\"Restricted access\"}","notes":""},"dataset_use":{"restrictions":"","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.","conf_dec":[{"txt":""}],"spec_perm":[{"txt":"","required":""}],"contact":[{"name":"","firstname":"","lastname":"","email":""}],"deposit_req":"","cit_req":""}}},"additional":{"versionLang":"en","originLang":"en","lastUpdatedAuto":"18-05-2026","lastUpdatedManual":"18-05-2026","autoTranslation":false,"status":"Draft","respValidation":"","isHealthTheme":false,"isContributorPI":"","addTeamMember":"","primaryInvestigator":{"isPIContact":false,"piMail":"","piAffiliation":{"piLabo":""}},"relatedDocument":[],"contactPointLabo":"","obtainedAuthorization":{"otherAuthorizingAgency":["",""]},"regulatoryRequirements":{"conformityDeclaration":""},"fundingAgent":{"fundingAgentType":[],"otherFundingAgentType":[""]},"sponsor":{"sponsorType":["Public (France)"],"otherSponsorType":[""]},"governance":{"committee":true},"collaborations":{"networkConsortium":""},"theme":{"complementaryInformation":"","RareDiseases":true},"interventionalStudy":{"researchPurpose":[],"trialPhase":[],"interventionalStudyModel":"","isClinicalTrial":"","otherResearchPurpose":""},"isInclusionGroups":"","allocation":{"allocationMode":"","allocationUnit":""},"masking":{"maskingType":"","blindedMaskingDetails":[]},"arms":[],"intervention":[],"cohortLongitudinal":{"recrutementTiming":[]},"otherResearchType":{"otherResearchTypeDetails":""},"inclusionGroups":[],"nrInclusionGroups":false,"collectionProcess":{"collectionModeDetails":"eCRF in secure web access, secure cloud and HADS hosting","collectionModeOther":""},"dataCollection":{"inclusionStrategy":[],"samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"activeFollowUp":{"isActiveFollowUp":true,"followUpModeOther":""},"dataCollectionIntegration":{"isDataIntegration":false},"geographicalCoverage":{"geoDetail":""},"dataTypes":{"clinicalDataDetails":"Growth, signs, symptoms and complications for each system (cardiologic, pulmonary, neurologic, gastrologic,...), psychomotor milestones and cognitive evolution, molecular data ...","biologicalDataDetails":"Urinary GAG, enzyme activities, before and during specific treatment, ....","isDataInBiobank":false,"biobankContent":[],"biobankContentOther":"","dataTypeOther":"","paraclinicalDataOther":"","otherLiquidsDetails":""},"variableDictionnary":{"variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[""]},"fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}},"creationDate":"18-05-2026","contributorName":"Elodie Mercier","contributorAffiliation":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)"},"schematype":"survey"}