{"doc_desc":{"title":"Biological Resources Centre (BRC) of The French Multiple Sclerosis Genetics Group","idno":"FRESH-PEF5153-en","producers":[{"name":"Bertrand FONTAINE","affiliation":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF5153-en","IDno":{"metadata_no":[{"agency":"PEF","code":"5153"},{"agency":"FReSH","code":"FRESH-PEF5153"}]},"title":"Biological Resources Centre (BRC) of The French Multiple Sclerosis Genetics Group","alternate_title":"CRB-REFGENSEP"},"study_authorization":{"agency":[]},"authoring_entity":[{"type":"investigator","name":"Bertrand;FONTAINE","PILabo":"INSERM \/ CRICM INSERM U 975","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","extlink":[{"title":"ORCID","uri":"0000-0003-4449-8683","role":"pi id"},{"title":"IdRef","uri":"050499556","role":"pi id"},{"title":"SIREN","uri":"180036048","role":"organisation id"},{"title":"","uri":"","role":"labo id"}],"email":"bertrand.fontaine@upmc.fr","isContact":"Yes"},{"type":"investigator","name":"Isabelle;REBEIX","PILabo":"INSERM \/ INSERM UMR S 975. CRICM","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","extlink":[{"title":"","uri":"","role":"pi id"},{"title":"IdRef","uri":"079036457","role":"pi id"},{"title":"SIREN","uri":"180036048","role":"organisation id"},{"title":"","uri":"","role":"labo id"}],"email":"isabelle.rebeix@upmc.fr","isContact":"Yes"}],"oth_id":[{"name":""}],"production_statement":{"prod_place":"Epidemiology France Portal (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":"ASS FRANCAISE CONTRE LES MYOPATHIES (AFM)","extlink":[{"title":"SIREN","uri":"775609571"}]},{"name":"FONDATION FRANCE SCLEROSE EN PLAQUES (FONDATION FRANCE SEP)","extlink":[{"title":"SIREN","uri":"313721409"}]},{"name":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/02vjkv261"},{"title":"SIREN","uri":"180036048"}]},{"name":"","extlink":[]}]},"distribution_statement":{"contact":[{"name":"Bertrand;FONTAINE","email":"bertrand.fontaine@upmc.fr","type":"contact","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","contactPointLabo":"","extlink":[{"uri":"https:\/\/ror.org\/02vjkv261","role":"organisation id","title":"ROR"},{"uri":"180036048","role":"organisation id","title":"SIREN"}]},{"name":"Isabelle;REBEIX","email":"isabelle.rebeix@upmc.fr","type":"contact","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","contactPointLabo":"","extlink":[{"uri":"https:\/\/ror.org\/02vjkv261","role":"organisation id","title":"ROR"},{"uri":"180036048","role":"organisation id","title":"SIREN"}]}]},"study_info":{"keywords":[{"keyword":"genetic and clinical criteria"},{"keyword":"patients"}],"topics":[{"topic":"Neurology","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/c4793dfe-e80e-49dd-9fcc-a1a742de1b25"},{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/00a5c4f4-b7ee-41a4-bcdf-3a02e6be1660"},{"title":"MeSH","uri":"http:\/\/id.nlm.nih.gov\/mesh\/D009462"}]},{"topic":"Biological determinants: Genetic predisposition","vocab":"health determinant"},{"topic":"Biological determinants","vocab":"health determinant"}],"purpose":"To make a collection of DNA and cells from patients with multiple sclerosis and their relatives that can be accessed by the scientific community (any team on request).","abstract":"","coll_dates":[{"start":"1996-01-01"}],"nation":[{"name":"France","abbreviation":"fr","extLink":{"vocab":"ISO","vocabURI":"fr"}}],"geog_coverage":"","analysis_unit":"Individuals","universe":"{\n    \"level_sex_clusion_I\": [\n        {\n            \"value\": \"Male\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D008297\"\n            }\n        },\n        {\n            \"value\": \"Female\",\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\": \"Young Adult (19 to 24 years)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D055815\"\n            }\n        },\n        {\n            \"value\": \"Adult (25 to 44 years)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000328\"\n            }\n        },\n        {\n            \"value\": \"Middle Aged (45 to 64 years)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D008875\"\n            }\n        },\n        {\n            \"value\": \"Aged (65 to 79 years)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000368\"\n            }\n        }\n    ],\n    \"level_type_clusion_I\": \"Patients population\",\n    \"level_type_clusion_other\": \"\",\n    \"clusion_I\": \"Adult patients with multiple sclerosis and their relatives.\",\n    \"clusion_E\": \"\"\n}","data_kind":"['Clinical data','Biological data','Socio-demographic data']","quality_statement":{"standards":[{"name":"","committee":"","governance":""}],"other_quality_statement":""}},"study_development":{"development_activity":[{"activity_type":"primary evaluation","activity_description":"Health event\/morbidity\r\nHealth event\/mortality"}]},"method":{"data_collection":{"time_method":"","frequency":"","sampling_procedure":"['{\"concept\":{\"vocabURI\":\"Other\",\"vocab\":\"CESSDA\"},\"value\":\"Other\"}']","sample_frame":{"frame_unit":{"unit_type":""}},"coll_mode":["{\"concept\":{\"vocabURI\":\"Interview\",\"vocab\":\"CESSDA\"},\"value\":\"Interview with the participant (including clinical)\"}"],"research_instrument":"Access on specific project only","sources":[],"target_sample_size":"[1000-10000[ individuals","response_rate":"6,000"},"method_notes":"Observational Study","study_class":"Unknown","notes":[{"subject":"research type","values":["Observational Study"]}]},"data_access":{"dataset_availability":{"access_place":"","complete":"","status":"{\"value\":\"Restricted access\",\"extLink\":[{\"title\":\"COAR\",\"uri\":\"http:\/\/purl.org\/coar\/access_right\/c_16ec\"}]}"},"dataset_use":{"restrictions":"","conditions":"Send written request to isabelle.rebeix@upmc.fr.","conf_dec":[{"txt":""}],"spec_perm":[{"txt":"","required":""}],"contact":[{"name":""}],"deposit_req":"","cit_req":""},"notes":""}},"additional":{"IsImport":true,"versionLang":"en","originLang":"en","autoTranslation":false,"status":"imported","creationDate":"17-12-2012","lastUpdatedAuto":null,"lastUpdatedManual":"12-05-2015","isContributorPI":"No","contributorName":"Bertrand FONTAINE","contributorAffiliation":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","addTeamMember":"","obtainedAuthorization":{"otherAuthorizingAgency":[]},"relatedDocument":[{"type":"","title":"Liste des publications dans Pubmed","link":"http:\/\/tinyurl.com\/PUBMED-CRB-REFGENSEP"}],"regulatoryRequirements":{"conformityDeclaration":""},"fundingAgent":{"fundingAgentType":["Private non-profit","Private non-profit","Public (France)","Public (France)"],"otherFundingAgentType":["","","",""]},"sponsor":{"sponsorType":["Public (France)"],"otherSponsorType":[""]},"governance":{"committee":""},"collaborations":{"networkConsortium":""},"theme":{"complementaryInformation":"","RareDiseases":""},"activeFollowUp":{"isActiveFollowUp":"Yes","followUpModeOther":""},"interventionalStudy":{"researchPurpose":[],"trialPhase":[],"interventionalStudyModel":"","isClinicalTrial":"","otherResearchPurpose":""},"isInclusionGroups":"","allocation":{"allocationMode":"","allocationUnit":""},"masking":{"maskingType":"","blindedMaskingDetails":[]},"arms":[],"intervention":[],"inclusionGroups":[],"collectionProcess":{"collectionModeDetails":"The following is collected during the clinical examination in a REFGENSEP network collection centre: age of disease onset, disease type and disability (EDSS\/Expanded Disability Status Scale). Genetic annotations are collected during collaborations with research teams.","collectionModeOther":""},"dataCollection":{"inclusionStrategyOther":"","samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"dataCollectionIntegration":{"isDataIntegration":"No"},"geographicalCoverage":{"geoDetail":"France"},"dataTypes":{"clinicalDataDetails":"","biologicalDataDetails":"HLA (human leukocyte antigen) genotype and SNP (single-nucleotide polymorphism) genotype.","isDataInBiobank":"Yes","biobankContent":[],"biobankContentOther":"","dataTypeOther":""},"variableDictionnary":{"variableDictionnaryAvailable":"","variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":"","mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[]},"isHealthTheme":"Yes","fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}