{"doc_desc":{"title":"French Rare Eye Disease Database","idno":"FReSH-43701-en","producers":[{"name":"Camille Marin","affiliation":""}]},"study_desc":{"title_statement":{"idno":"FReSH-43701-en","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 15-20, Strasbourg University Hospitals, Lille University Hospital, Nantes University Hospital, Montpellier University Hospital","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":"retinitis pigmentosa"},{"keyword":"rare eye disease"},{"keyword":"health data warehouse"},{"keyword":"EDS"},{"keyword":"SENSGENE"},{"keyword":"INSERM"},{"keyword":"inherited retinal dystrophies"}],"topics":[{"topic":"Medical genetics","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/8e2d297f-5880-4d7a-969d-79026aa0779c"},{"title":"MeSH","uri":"D005823"}],"vocab":"health theme"},{"topic":"Ophthalmology","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/621ef1ce-2ebd-43d9-a6c7-ecd962d27269"},{"title":"MeSH","uri":"D009885"}],"vocab":"health theme"},{"topic":"Inherited retinal dystrophies","vocab":"cim-11","extLink":[{"title":"CIM-11","uri":"http:\/\/id.who.int\/icd\/entity\/1060480722"}]},{"topic":"Biological determinants","vocab":"health determinant"},{"topic":"Biological determinants: Genetic predisposition","vocab":"health determinant"}],"purpose":"FREDD\u2019s goal is to put this data to work for science. By bringing together a critical mass of information (clinical, genetic, and imaging data), we enable researchers to better understand the progression of these diseases, discover new biomarkers, develop the innovative treatments of the future, and more.","abstract":"FREDD (short for French Rare Eye Diseases Database) is much more than just a database. It is a nationwide Health Data Warehouse (HDW), designed to centralize and securely store medical information on patients with rare eye diseases and their families. Integrated at the heart of the SENSGENE healthcare network, FREDD collects valuable data on complex retinal conditions, such as retinitis pigmentosa, Stargardt disease, Usher syndrome, and many others.","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\": \"Female\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D008297\"\n            },\n            \"value\": \"Male\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"\"\n            },\n            \"value\": \"Other\"\n        }\n    ],\n    \"level_age_clusion_I\": [\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"\"\n            },\n            \"value\": \"Prenatal\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D007231\"\n            },\n            \"value\": \"Infant, Newborn (birth to 28 days)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D007223\"\n            },\n            \"value\": \"Infant (28 days to 2 years)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D002675\"\n            },\n            \"value\": \"Child, Preschool (2 to 5 years)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D002648\"\n            },\n            \"value\": \"Child (6 to 12 years)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D000293\"\n            },\n            \"value\": \"Adolescent (13 to 18 years)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D055815\"\n            },\n            \"value\": \"Young Adult (19 to 24 years)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D000328\"\n            },\n            \"value\": \"Adult (25 to 44 years)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D008875\"\n            },\n            \"value\": \"Middle Aged (45 to 64 years)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D000368\"\n            },\n            \"value\": \"Aged (65 to 79 years)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D000369\"\n            },\n            \"value\": \"Aged, 80 and over (80 years and more)\"\n        }\n    ],\n    \"level_type_clusion_I\": \"Patients population\",\n    \"level_type_clusion_other\": \"\",\n    \"clusion_I\": \"Suffering from a rare eye disease\",\n    \"clusion_E\": \"\"\n}","data_kind":"['Clinical data','Paraclinical data (non-biological)','Paraclinical data (non-biological) : Imaging','Genetic \/ genomic data']","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":"Not appropriate"},{"activity_type":"secondary evaluation","activity_description":"Not appropriate"}]},"method":{"data_collection":{"time_method":"Other","frequency":"Daily - 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