{"doc_desc":{"title":"French Rare Eye Disease Database","idno":"FReSH-43701-fr","producers":[{"name":"Camille Marin","affiliation":""}]},"study_desc":{"title_statement":{"idno":"FReSH-43701-fr","IDno":{"metadata_no":[{"agency":"","code":""}],"metadata_yes":[{"code":"FReSH","agency":"FReSH"}]},"title":"French Rare Eye Disease Database","alternate_title":"FREDD"},"study_authorization":{"agency":[{"name":"CNIL"}]},"authoring_entity":[{"name":"H\u00e9l\u00e8ne ;DOLLFUS","firstname":"H\u00e9l\u00e8ne ","lastname":"DOLLFUS","type":"investigator","extlink":[{"title":"ORCID","uri":"","role":"pi id"},{"title":"IdRef","uri":"","role":"pi id"},{"title":"SIREN","uri":"180036048","role":"organisation id"},{"title":"ROR","uri":"https:\/\/ror.org\/02vjkv261","role":"organisation id"},{"title":"RNSR","uri":"200515207M","role":"labo id"}],"email":"dollfus@unistra.fr","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","PILabo":"UMR_U1112","isContact":true}],"oth_id":[{"name":"CHNO de 15-20, Hopitaux Universitaires de Strasbourg, CHU de Lille, CHU de Nantes, CHU de Montpellier","type":"collaboration"}],"production_statement":{"prod_place":"France Recherche en Sant\u00e9 Humaine (FReSH)","producers":[{"name":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","role":"sponsor","extlink":[{"title":"SIREN","uri":"180036048","role":"sponsor id"},{"title":"ROR","uri":"https:\/\/ror.org\/02vjkv261","role":"sponsor id"}]}],"funding_agencies":[{"name":"MINISTERE DE L\u2019ENSEIGNEMENT SUPERIEUR, DE LA RECHERCHE ET DE L\u2019ESPACE","extlink":[{"title":"SIREN","uri":"110044013"},{"title":"ROR","uri":"https:\/\/ror.org\/03sjk9a61"}]},{"name":"MINISTERE DU TRAVAIL, DE LA SANTE, DES SOLIDARITES ET DES FAMILLES","extlink":[{"title":"SIREN","uri":"130016546"},{"title":"ROR","uri":"https:\/\/ror.org\/01wp0c315"}]}]},"distribution_statement":{"contact":[{"name":"H\u00e9l\u00e8ne ;DOLLFUS","lastname":"DOLLFUS","firstname":"H\u00e9l\u00e8ne ","type":"contact","email":"dollfus@unistra.fr","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","contactPointLabo":"UMR_U1112","extlink":[{"title":"SIREN","uri":"180036048","role":"organisation id"},{"title":"ROR","uri":"https:\/\/ror.org\/02vjkv261","role":"organisation id"},{"title":"RNSR","uri":"200515207M","role":"labo id"}]}]},"study_info":{"keywords":[{"keyword":"r\u00e9tinite pigmentaire"},{"keyword":"maladie rare de l'oeil"},{"keyword":"entrepot de donn\u00e9es de sant\u00e9"},{"keyword":"EDS"},{"keyword":"SENSGENE"},{"keyword":"INSERM"},{"keyword":"dystrophies h\u00e9r\u00e9ditaires de la r\u00e9tine"}],"topics":[{"topic":"G\u00e9n\u00e9tique m\u00e9dicale","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/8e2d297f-5880-4d7a-969d-79026aa0779c"},{"title":"MeSH","uri":"D005823"}],"vocab":"health theme"},{"topic":"Ophtalmologie","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/621ef1ce-2ebd-43d9-a6c7-ecd962d27269"},{"title":"MeSH","uri":"D009885"}],"vocab":"health theme"},{"topic":"Dystrophies r\u00e9tiniennes h\u00e9r\u00e9ditaires","vocab":"cim-11","extLink":[{"title":"CIM-11","uri":"http:\/\/id.who.int\/icd\/entity\/1060480722"}]},{"topic":"D\u00e9terminants biologiques","vocab":"health determinant"},{"topic":"D\u00e9terminants biologiques : Pr\u00e9disposition g\u00e9n\u00e9tique","vocab":"health determinant"}],"purpose":"L\u2019objectif de FREDD est de mettre ces donn\u00e9es au service de la science. En regroupant une masse critique d\u2019informations (cliniques, g\u00e9n\u00e9tiques, imagerie), nous permettons aux chercheurs de mieux comprendre l\u2019\u00e9volution de ces maladies, d\u00e9couvrir de nouveaux biomarqueurs, d\u00e9velopper les traitements innovants de demain etc.","abstract":"FREDD (pour French Rare Eye Diseases Database) est bien plus qu\u2019une simple base de donn\u00e9es. C\u2019est un Entrep\u00f4t de Donn\u00e9es de Sant\u00e9 (EDS) d\u2019envergure nationale, con\u00e7u pour centraliser et s\u00e9curiser les informations m\u00e9dicales des patients atteints de maladies rares de l\u2019\u0153il et de leurs proches. Int\u00e9gr\u00e9 au c\u0153ur de la fili\u00e8re de sant\u00e9 SENSGENE, FREDD rassemble des donn\u00e9es pr\u00e9cieuses sur des pathologies complexes de la r\u00e9tine, telles que la r\u00e9tinite pigmentaire, la maladie de Stargardt, le syndrome de Usher, et bien d\u2019autres.","coll_dates":[{"start":"2024-05-01"}],"nation":[{"name":"France","abbreviation":"fr","extLink":{"vocab":"ISO","vocabURI":"fr"}}],"geog_coverage":"","analysis_unit":"Individus","universe":"{\n    \"level_sex_clusion_I\": [\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D005260\"\n            },\n            \"value\": \"F\u00e9minin\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D008297\"\n            },\n            \"value\": \"Masculin\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"\"\n            },\n            \"value\": \"Autre\"\n        }\n    ],\n    \"level_age_clusion_I\": [\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"\"\n            },\n            \"value\": \"Pr\u00e9natal\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D007231\"\n            },\n            \"value\": \"Nouveau-n\u00e9 (naissance \u00e0 28j)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D007223\"\n            },\n            \"value\": \"Nourrisson (28j \u00e0 2 ans)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D002675\"\n            },\n            \"value\": \"Petite enfance (2 \u00e0 5 ans)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D002648\"\n            },\n            \"value\": \"Enfance (6 \u00e0 12 ans)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D000293\"\n            },\n            \"value\": \"Adolescence (13 \u00e0 18 ans)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D055815\"\n            },\n            \"value\": \"Adulte (19 \u00e0 24 ans)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D000328\"\n            },\n            \"value\": \"Adulte (25 \u00e0 44 ans)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D008875\"\n            },\n            \"value\": \"Adulte (45 \u00e0 64 ans)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D000368\"\n            },\n            \"value\": \"Personne \u00e2g\u00e9e (65 \u00e0 79 ans)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D000369\"\n            },\n            \"value\": \"Grand \u00e2ge (80 ans et plus)\"\n        }\n    ],\n    \"level_type_clusion_I\": \"Patients\",\n    \"level_type_clusion_other\": \"\",\n    \"clusion_I\": \"Atteint d'une maladie rare de l'oeil\",\n    \"clusion_E\": \"\"\n}","data_kind":"['Donn\u00e9es cliniques','Donn\u00e9es paracliniques (hors biologiques)','Donn\u00e9es paracliniques (hors biologiques) : Imagerie','Donn\u00e9es g\u00e9n\u00e9tiques \/ g\u00e9nomiques']","quality_statement":{"standards":[{"name":"['SDM-MR, ORPHA, HPO, HGVS, HGNC, ATC']","committee":"","governance":""}],"other_quality_statement":""}},"study_development":{"development_activity":[{"activity_type":"primary evaluation","activity_description":"Non appropri\u00e9"},{"activity_type":"secondary evaluation","activity_description":"Non appropri\u00e9"}]},"method":{"data_collection":{"time_method":"Autre","frequency":"Quotidienne - 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