{"doc_desc":{"title":"RaDiCo-MPS - Les patients atteints de mucopolysaccharidoses en France \u00e0 l\u2019\u00e8re des traitements sp\u00e9cifiques","idno":"FRESH-PEF74146-fr","producers":[{"name":"ibtihel impactgroup","affiliation":""}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF74146-fr","IDno":{"metadata_no":[{"agency":"PEF","code":"74146"},{"agency":"FReSH","code":"FRESH-PEF74146"}]},"title":"RaDiCo-MPS - Les patients atteints de mucopolysaccharidoses en France \u00e0 l\u2019\u00e8re des traitements sp\u00e9cifiques","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":"Portail Epid\u00e9miologie France (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":"Mucopolysaccharidose","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/1596128696","title":"CIM-11"}]}],"purpose":"L\u2019objectif principal de la cohorte RaDiCo-MPS est de caract\u00e9riser l\u2019\u00e9pid\u00e9miologie et l\u2019histoire naturelle des MPS en construisant une collecte r\u00e9trospective et prospective de donn\u00e9es ph\u00e9notypiques \u00e9tendues de patients fran\u00e7ais atteints de MPS.","abstract":"","coll_dates":[{"start":"2017-01-01"}],"nation":[{"name":"France","abbreviation":"fr","extLink":{"vocab":"ISO","vocabURI":"fr"}}],"geog_coverage":"","analysis_unit":"Individus","universe":"{level_sex_clusion_I:[{value:Masculin,concept:{vocab:MeSH,vocabURI:D008297}},{value:F\u00e9minin,concept:{vocab:MeSH,vocabURI:D005260}}],level_age_clusion_I:[{value:Nouveau-n\u00e9 (naissance \u00e0 28j),concept:{vocab:MeSH,vocabURI:D007231}},{value:Nourrisson (28j \u00e0 2 ans),concept:{vocab:MeSH,vocabURI:D007223}},{value:Petite enfance (2 \u00e0 5 ans),concept:{vocab:MeSH,vocabURI:D002675}},{value:Enfance (6 \u00e0 12 ans),concept:{vocab:MeSH,vocabURI:D002648}},{value:Adolescence (13 \u00e0 18 ans),concept:{vocab:MeSH,vocabURI:D000293}},{value:Adulte (19 \u00e0 24 ans),concept:{vocab:MeSH,vocabURI:D055815}},{value:Adulte (25 \u00e0 44 ans),concept:{vocab:MeSH,vocabURI:D000328}},{value:Adulte (45 \u00e0 64 ans),concept:{vocab:MeSH,vocabURI:D008875}}],level_type_clusion_I:Patients,level_type_clusion_other:,clusion_I:Les crit\u00e8res d\u2019inclusion de la cohorte RaDiCo-MPS sont les suivants : - Diagnostic confirm\u00e9 de MPS bas\u00e9 sur un d\u00e9ficit enzymatique cliniquement pertinent, avec une excr\u00e9tion urinaire anormalement \u00e9lev\u00e9e de GAG et\/ou l\u2019identification de mutations pathog\u00e8nes. - Consentement \u00e9clair\u00e9 sign\u00e9 ou non-opposition parents\/tuteur pour les patients d\u00e9c\u00e9d\u00e9s (mineurs ou majeurs prot\u00e9g\u00e9s).  Il n'y a pas de crit\u00e8res de non inclusion.,clusion_E:}","data_kind":"['Donn\u00e9es cliniques','Donn\u00e9es paracliniques (hors biologiques)','Donn\u00e9es paracliniques (hors biologiques) : Imagerie','Donn\u00e9es paracliniques (hors biologiques) : Exploration fonctionnelle','Donn\u00e9es biologiques','Donn\u00e9es de sant\u00e9 rapport\u00e9es par les participants de l'\u00e9tude']","quality_statement":{"standards":[{"name":"['Dictionnaire Th\u00e9riaque des m\u00e9dicaments']","committee":"","governance":""}],"other_quality_statement":"['Plan de Data Management et Plan de Validation des Donn\u00e9es. Management des donn\u00e9es en continu (r\u00e8gles de contr\u00f4le automatiques et syst\u00e8me de queries)']"}},"study_development":{"development_activity":[{"activity_type":"primary evaluation","activity_description":"Ev\u00e9nements de sant\u00e9\/morbidit\u00e9\r\nEv\u00e9nements de sant\u00e9\/mortalit\u00e9\r\nQualit\u00e9 de vie\/sant\u00e9 per\u00e7ue"}]},"method":{"data_collection":{"time_method":"","frequency":"","sampling_procedure":"['{concept:{vocabURI:Other,vocab:CESSDA},value:Autre}']","sample_frame":{"frame_unit":{"unit_type":"['Via des structures (services ou \u00e9tablissements de sant\u00e9, \u00e9coles, entreprises\u2026)']"}},"coll_mode":["{concept:{vocabURI:Interview,vocab:CESSDA},value:Entretien avec le participant (dont clinique)}","{concept:{vocabURI:Transcription,vocab:CESSDA},value:Transcription et saisie d\u2019informations dans un enregistrement structur\u00e9}"],"research_instrument":"Acc\u00e8s restreint sur projet sp\u00e9cifique","sources":[],"target_sample_size":"< 500 individus","response_rate":""},"method_notes":"Etude observationnelle","study_class":"Inconnu","notes":[{"subject":"research type","values":["Etude observationnelle"]},{"subject":"observational study method","values":["Registre de morbidit\u00e9"]}]},"data_access":{"dataset_availability":{"access_place":"","complete":"","status":"{value:Acc\u00e8s r\u00e9serv\u00e9,extLink:[{title:COAR,uri:http:\/\/purl.org\/coar\/access_right\/c_16ec}]}","notes":""},"dataset_use":{"restrictions":"","conditions":"Les demandes d'acc\u00e8s aux donn\u00e9es RaDiCo-MPS (agr\u00e9g\u00e9es ou individuelles) seront examin\u00e9es par le Comit\u00e9 Scientifique suite \u00e0 la soumission d'un r\u00e9sum\u00e9 de Projet de Recherche Sp\u00e9cifique (PRS), tel que d\u00e9fini dans la Charte d'acc\u00e8s aux ressources.","conf_dec":[{"txt":""}],"spec_perm":[{"txt":"","required":""}],"contact":[{"name":""}],"deposit_req":"","cit_req":""}}},"additional":{"versionLang":"fr","originLang":"fr","autoTranslation":false,"status":"Import\u00e9e","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 en acc\u00e8s s\u00e9curis\u00e9 web, cloud s\u00e9curis\u00e9 et h\u00e9bergement HADS","collectionModeOther":""},"dataCollection":{"inclusionStrategyOther":"","samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"dataCollectionIntegration":{"isDataIntegration":false},"geographicalCoverage":{"geoDetail":""},"dataTypes":{"clinicalDataDetails":"Croissance, signes, sympt\u00f4mes et complications pour chaque syst\u00e8me (cardiologique, pulmonaire, neurologique, gastrologique,...), jalons psychomoteurs et \u00e9volution cognitive, donn\u00e9es mol\u00e9culaires...","biologicalDataDetails":"GAG urinaire, activit\u00e9s enzymatiques, avant et pendant un traitement sp\u00e9cifique, ....","isDataInBiobank":false,"biobankContent":[],"biobankContentOther":"","dataTypeOther":""},"variableDictionnary":{"variableDictionnaryAvailable":"","variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":"","mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[]},"isHealthTheme":false,"fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}