{"doc_desc":{"title":"RaDiCo-MPS - Mucopolysaccharidosis patients in France in the era of specific therapeutics","idno":"FRESH-PEF74146-en","producers":[{"name":"ibtihel impactgroup","affiliation":""}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF74146-en","IDno":{"metadata_no":[{"agency":"PEF","code":"74146"},{"agency":"FReSH","code":"FRESH-PEF74146"}]},"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":"ROR","uri":"https:\/\/ror.org\/00pg5jh14","role":"organisation id"},{"title":"SIREN","uri":"267500452","role":"organisation id"},{"uri":"0000-0002-2871-4588","role":"pi id","title":"ORCID"},{"uri":"034282149","role":"pi id","title":"IdRef"}],"email":"","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","PILabo":"","isContact":false}],"oth_id":[{"name":""}],"production_statement":{"prod_place":"Epidemiology France Portal (PEF)","producers":[{"name":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/02vjkv261","role":"sponsor id"},{"title":"SIREN","uri":"180036048","role":"sponsor id"}],"role":"sponsor"}],"funding_agencies":[{"name":""}]},"distribution_statement":{"contact":[{"name":"","type":"contact","email":""}]},"study_info":{"keywords":[],"topics":[{"topic":"Mucopolysaccharidosis","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/1596128696","title":"CIM-11"}]}],"purpose":"The primary objective of the RaDiCo-MPS cohort is to characterize the epidemiology and natural history of MPS diseases by building a retrospective and prospective collection of extensive phenotypic data from French MPS patients.","abstract":"","coll_dates":[{"start":"2017-01-01"}],"nation":[{"name":"France","abbreviation":"fr","extLink":{"vocab":"ISO","vocabURI":"fr"}}],"geog_coverage":"","analysis_unit":"Individuals","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: \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)\",\"clusion_E\":\"There are no non-inclusion criteria.\"}","data_kind":"['Clinical data','Paraclinical data (non-biological)','Paraclinical data (non-biological) : Imaging','Paraclinical data (non-biological) : Function testing','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"}]},"method":{"data_collection":{"time_method":"","frequency":"","sampling_procedure":"['{\"concept\":{\"vocabURI\":\"Other\",\"vocab\":\"CESSDA\"},\"value\":\"Other\"}']","sample_frame":{"frame_unit":{"unit_type":"['Through organizations (health services or institutions, schools, businesses, etc.)']"}},"coll_mode":["{\"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\"}"],"research_instrument":"Access on specific project only","sources":[],"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":"{\"value\":\"Restricted access\",\"extLink\":[{\"title\":\"COAR\",\"uri\":\"http:\/\/purl.org\/coar\/access_right\/c_16ec\"}]}","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":""}],"deposit_req":"","cit_req":""}}},"additional":{"versionLang":"en","originLang":"en","autoTranslation":false,"status":"Imported","creationDate":"16-02-2024","lastUpdatedManual":"03-12-2024","isContributorPI":"","contributorName":"ibtihel impactgroup","contributorAffiliation":"","addTeamMember":"","obtainedAuthorization":{"otherAuthorizingAgency":["",""]},"relatedDocument":[],"regulatoryRequirements":{"conformityDeclaration":""},"fundingAgent":{"fundingAgentType":[],"otherFundingAgentType":[]},"sponsor":{"sponsorType":["Public (France)"],"otherSponsorType":[""]},"governance":{"committee":true},"collaborations":{"networkConsortium":""},"theme":{"complementaryInformation":"","RareDiseases":true},"activeFollowUp":{"isActiveFollowUp":true,"followUpModeOther":""},"interventionalStudy":{"researchPurpose":[],"trialPhase":[],"interventionalStudyModel":"","isClinicalTrial":"","otherResearchPurpose":""},"isInclusionGroups":"","allocation":{"allocationMode":"","allocationUnit":""},"masking":{"maskingType":"","blindedMaskingDetails":[]},"arms":[],"intervention":[],"inclusionGroups":[],"collectionProcess":{"collectionModeDetails":"eCRF in secure web access, secure cloud and HADS hosting","collectionModeOther":""},"dataCollection":{"inclusionStrategyOther":"","samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"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":""},"variableDictionnary":{"variableDictionnaryAvailable":"","variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":"","mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[]},"isHealthTheme":false,"fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}