{"doc_desc":{"title":"Etablissement d\u2019une base de donn\u00e9es internationale pour \u00e9tudier l\u2019histoire naturelle du syndrome d\u2019Alport","idno":"FRESH-PEF74150-fr","producers":[{"name":"Sonia GUEGUEN","affiliation":"SORBONNE UNIVERSITE"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF74150-fr","IDno":{"metadata_no":[{"agency":"PEF","code":"74150"},{"agency":"FReSH","code":"FRESH-PEF74150"}]},"title":"Etablissement d\u2019une base de donn\u00e9es internationale pour \u00e9tudier l\u2019histoire naturelle du syndrome d\u2019Alport","alternate_title":"RaDiCo-EURBIO-Alport"},"study_authorization":{"agency":[{"name":"CNIL"},{"name":"CPP"},{"name":"CESREES"}]},"authoring_entity":[{"name":"Laurence;HEIDET","firstname":"Laurence","lastname":"HEIDET","type":"investigator","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/00pg5jh14","role":"organisation id"},{"title":"SIREN","uri":"267500452","role":"organisation 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d'Alport.","abstract":"","coll_dates":[{"start":"2017-01-01","end":"2025-01-01"}],"nation":[{"name":"Su\u00e8de","abbreviation":"se","extLink":{"vocab":"ISO","vocabURI":"se"}},{"name":"France","abbreviation":"fr","extLink":{"vocab":"ISO","vocabURI":"fr"}}],"geog_coverage":"","analysis_unit":"Individus","universe":"{\n    \"level_sex_clusion_I\": [\n        {\n            \"value\": \"Masculin\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D008297\"\n            }\n        },\n        {\n            \"value\": \"F\u00e9minin\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D005260\"\n            }\n        }\n    ],\n    \"level_age_clusion_I\": [\n        {\n            \"value\": \"Petite enfance (2 \u00e0 5 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D002675\"\n            }\n        },\n        {\n            \"value\": \"Enfance (6 \u00e0 12 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D002648\"\n            }\n        },\n        {\n            \"value\": \"Adolescence (13 \u00e0 18 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000293\"\n            }\n        },\n        {\n            \"value\": \"Adulte (19 \u00e0 24 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D055815\"\n            }\n        },\n        {\n            \"value\": \"Adulte (25 \u00e0 44 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000328\"\n            }\n        },\n        {\n            \"value\": \"Adulte (45 \u00e0 64 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D008875\"\n            }\n        },\n        {\n            \"value\": \"Personne \u00e2g\u00e9e (65 \u00e0 79 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000368\"\n            }\n        },\n        {\n            \"value\": \"Grand \u00e2ge (80 ans et plus)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000369\"\n            }\n        }\n    ],\n    \"level_type_clusion_I\": \"Patients\",\n    \"level_type_clusion_other\": \"\",\n    \"clusion_I\": \"Les crit\u00e8res d\u2019inclusion de la cohorte RaDiCo-EURBIO sont les suivants : - Diagnostic du syndrome d\u2019Alport bas\u00e9 sur (i) l'examen en microscopie \u00e9lectronique de la biopsie r\u00e9nale et\\\/ou (ii) des \u00e9tudes mol\u00e9culaires et\\\/ou (iii) une expression  anormale des cha\u00eenes de collag\u00e8ne de type IV sur la peau et\\\/ou les membranes basales glom\u00e9rulaires.  - Consentement \u00e9clair\u00e9 sign\u00e9  Il n\u2019y a pas de crit\u00e8res de \",\n    \"clusion_E\": \"\"\n}","data_kind":"['Donn\u00e9es cliniques','Donn\u00e9es rapport\u00e9es par le participant de l'\u00e9tude','Donn\u00e9es paracliniques','Donn\u00e9es biologiques']","quality_statement":{"standards":[{"name":"","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\":\"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":"[500-1000[ individus","response_rate":"642"},"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\"}]}"},"dataset_use":{"restrictions":"","conditions":"Les demandes d'acc\u00e8s aux donn\u00e9es de RaDiCo-EURBIO (agr\u00e9g\u00e9es ou individuelles) seront examin\u00e9es par le comit\u00e9 scientifique suite \u00e0 la soumission d'un synopsis 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":""},"notes":""}},"additional":{"IsImport":true,"versionLang":"fr","originLang":"fr","autoTranslation":false,"status":"imported","creationDate":"29-02-2024","lastUpdatedAuto":null,"lastUpdatedManual":"03-12-2024","isContributorPI":false,"contributorName":"","contributorAffiliation":"","addTeamMember":"","obtainedAuthorization":{"otherAuthorizingAgency":["","",""]},"relatedDocument":[],"regulatoryRequirements":{"conformityDeclaration":""},"fundingAgent":{"fundingAgentType":["Public (France)"],"otherFundingAgentType":[""]},"sponsor":{"sponsorType":["Public (France)"],"otherSponsorType":[""]},"governance":{"committee":true},"collaborations":{"networkConsortium":true},"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":"Les principales variables collect\u00e9es, en plus des donn\u00e9es CEMARA d\u00e9j\u00e0 import\u00e9es sont : la d\u00e9mographie, les ant\u00e9c\u00e9dents familiaux, les sympt\u00f4mes oculaires, les donn\u00e9es sur la surdit\u00e9 et l'audiogramme, les traitements, le diagnostic mol\u00e9culaire, les param\u00e8tres biochimiques et r\u00e9naux (ESRD, dialyse\u2026), les examens cliniques ainsi que les auto-questionnaires sur la qualit\u00e9 de vie","biologicalDataDetails":"les param\u00e8tres biochimiques, h\u00e9matologiques et r\u00e9naux (ESRD, dialyse\u2026)","isDataInBiobank":true,"biobankContent":[],"biobankContentOther":"","dataTypeOther":""},"variableDictionnary":{"variableDictionnaryAvailable":"","variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":"","mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[]},"isHealthTheme":true,"fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}