{"doc_desc":{"title":"Cohorte de patients ayant un cadasil","idno":"FRESH-PEF60170-fr","producers":[{"name":"Hugues CHABRIAT","affiliation":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF60170-fr","IDno":{"metadata_no":[{"agency":"PEF","code":"60170"},{"agency":"FReSH","code":"FRESH-PEF60170"}]},"title":"Cohorte de patients ayant un cadasil","alternate_title":"CADASIL"},"study_authorization":{"agency":[{"name":"CNIL"}]},"authoring_entity":[{"type":"investigator","name":"Hugues;CHABRIAT","PILabo":"APHP \/ CERVCO CENTRE DE R\u00c9F\u00c9RENCES POUR LES MALADIES RARES DES VAISSEAUX DU CERVEAU ET DE L'OEIL, HOPITAL LARIBOISIERE","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","extlink":[{"title":"ORCID","uri":"0000-0001-8436-6074","role":"pi id"},{"title":"IdRef","uri":"060577304","role":"pi id"},{"title":"SIREN","uri":"267500452","role":"organisation id"},{"title":"","uri":"","role":"labo 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determinant"},{"topic":"D\u00e9terminants socio-d\u00e9mographiques et \u00e9conomiques","vocab":"health determinant"}],"purpose":"Objectif g\u00e9n\u00e9ral : \u00e9tude prospective des patients ayant une mutation du g\u00e8ne NOTCH 3 responsable de Cadasil : recherche des facteurs pronostiques et des marqueurs utiles pour un essai th\u00e9rapeutique pr\u00e9ventif Objectifs secondaires : - D\u00e9terminer les corr\u00e9lations clinicoradiologiques - \u00c9tudes des facteurs modificateurs du ph\u00e9notype clinique et IRM - Facteurs \u00e9volutifs et pronostiques - Variabilit\u00e9 du ph\u00e9notype clinique - Histoire naturelle de la maladie","abstract":"","coll_dates":[{"start":"2006-01-01","end":"2007-01-01"}],"nation":[{"name":"France","abbreviation":"fr","extLink":{"vocab":"ISO","vocabURI":"fr"}}],"geog_coverage":"['Ile-de-France']","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\": \"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\": \"patients majeurs ayant une mutation du g\u00e8ne NOTCH 3 responsable de Cadasil\",\n    \"clusion_E\": \"\"\n}","data_kind":"['Donn\u00e9es cliniques','Donn\u00e9es paracliniques','Donn\u00e9es biologiques','Donn\u00e9es 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