{"study_desc":{"title_statement":{"idno":"FRESH-PEF60079-fr","IDno":{"metadata_no":[{"agency":"PEF","code":"60079"},{"agency":"FReSH","code":"FRESH-PEF60079"}]},"title":"Cohorte de patients atteints de la maladie d'Huntington","alternate_title":"COHORTE DU RESEAU RHLF (r\u00e9seau Huntington de langue fran\u00e7aise)"},"study_authorization":{"agency":[{"name":"CNIL"}]},"authoring_entity":[{"name":"Anne-Catherine;BACHOUD-LEVI","firstname":"Anne-Catherine","lastname":"BACHOUD-LEVI","type":"investigator","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/05ggc9x40","role":"organisation id"},{"title":"SIREN","uri":"199411117","role":"organisation id"},{"uri":"0000-0003-3000-2210","role":"pi id","title":"ORCID"},{"uri":"07030761X","role":"pi id","title":"IdRef"}],"email":"anne-catherine.bachoud-levi@aphp.fr","affiliationName":"UNIVERSITE PARIS EST CRETEIL VAL DE MARNE (UPEC)","PILabo":"INSTITUT MONDOR DE RECHERCHE \/ U841 - INSTITUT MONDOR DE RECHERCHE BIOMEDICALE (IMRB)","isContact":true}],"oth_id":[{"name":"","type":""},{"name":"","type":""}],"production_statement":{"prod_place":"Portail Epid\u00e9miologie France (PEF)","producers":[{"name":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/00pg5jh14","role":"sponsor id"},{"title":"SIREN","uri":"267500452","role":"sponsor id"}],"role":"sponsor"}],"funding_agencies":[{"name":""}]},"distribution_statement":{"contact":[{"name":"Anne-Catherine;BACHOUD-LEVI","lastname":"BACHOUD-LEVI","firstname":"Anne-Catherine","type":"contact","email":"anne-catherine.bachoud-levi@aphp.fr","affiliationName":"UNIVERSITE PARIS EST CRETEIL VAL DE MARNE (UPEC)","contactPointLabo":"","extlink":[{"uri":"https:\/\/ror.org\/05ggc9x40","role":"organisation id","title":"ROR"},{"uri":"199411117","role":"organisation id","title":"SIREN"}]}]},"study_info":{"keywords":[{"keyword":"\u00e9volution de la maladie"},{"keyword":"recherches en \u00e9pid\u00e9miologie"},{"keyword":"biologie"},{"keyword":"th\u00e9rapeutique"},{"keyword":"\u00e9v\u00e9nements de sant\u00e9"},{"keyword":"prise en charge"},{"keyword":"clinique"},{"keyword":"imagerie"},{"keyword":"g\u00e9n\u00e9tique"}],"topics":[{"topic":"Neurologie","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/c4793dfe-e80e-49dd-9fcc-a1a742de1b25 | http:\/\/data.europa.eu\/8mn\/euroscivoc\/00a5c4f4-b7ee-41a4-bcdf-3a02e6be1660"},{"title":"MeSH","uri":"D009462"}]},{"topic":"D\u00e9terminants biologiques : Pr\u00e9disposition g\u00e9n\u00e9tique","vocab":"health determinant"},{"topic":"D\u00e9terminants biologiques","vocab":"health determinant"}],"purpose":"Objectif g\u00e9n\u00e9ral : am\u00e9liorer la prise en charge des patients, faciliter et promouvoir les recherches en \u00e9pid\u00e9miologie, clinique, imagerie, g\u00e9n\u00e9tique, biologie et th\u00e9rapeutique","abstract":"","coll_dates":[{"start":"2002-01-01"}],"nation":[{"name":"France","abbreviation":"fr","extLink":{"vocab":"ISO","vocabURI":"fr"}}],"geog_coverage":"","analysis_unit":"Individus","universe":"{\"level_sex_clusion_I\":[{\"value\":\"Masculin\",\"concept\":{\"vocab\":\"MeSH\",\"vocabURI\":\"D008297\"}},{\"value\":\"F\u00e9minin\",\"concept\":{\"vocab\":\"MeSH\",\"vocabURI\":\"D005260\"}}],\"level_age_clusion_I\":[{\"value\":\"Adulte (19 \u00e0 24 ans)\",\"concept\":{\"vocab\":\"MeSH\",\"vocabURI\":\"D055815\"}},{\"value\":\"Adulte (25 \u00e0 44 ans)\",\"concept\":{\"vocab\":\"MeSH\",\"vocabURI\":\"D000328\"}},{\"value\":\"Adulte (45 \u00e0 64 ans)\",\"concept\":{\"vocab\":\"MeSH\",\"vocabURI\":\"D008875\"}}],\"level_type_clusion_I\":\"Patients\",\"level_type_clusion_other\":\"\",\"clusion_I\":\"patients pr\u00e9sentant une maladie de Huntington g\u00e9n\u00e9tiquement identifi\u00e9e et des signes cliniques d'apparition r\u00e9cente.\",\"clusion_E\":\"\"}","data_kind":"['Donn\u00e9es cliniques','Donn\u00e9es paracliniques (hors biologiques)','Donn\u00e9es paracliniques (hors biologiques) : Imagerie','Donn\u00e9es biologiques','Donn\u00e9es de sant\u00e9 rapport\u00e9es par les participants de l'\u00e9tude']","quality_statement":{"standards":[{"name":"","committee":"","governance":""}],"other_quality_statement":"['Pr\u00e9sence d'une requ\u00eate de coh\u00e9rence apr\u00e8s la saisie des donn\u00e9es informatiques. Requ\u00eates \u00e9mises par l\u2019attach\u00e9e de recherche clinique (arc, data-manager). R\u00e9alisation d'audit qualit\u00e9.']"}},"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"}]},"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\"}","{\"concept\":{\"vocabURI\":\"Interview\",\"vocab\":\"CESSDA\"},\"value\":\"Entretien avec le participant (dont clinique)\"}"],"research_instrument":"Acc\u00e8s restreint sur projet sp\u00e9cifique","sources":[],"target_sample_size":"[1000-10000[ individus","response_rate":"6000"},"method_notes":"Etude observationnelle","study_class":"Inconnu","notes":[{"subject":"research type","values":["Etude observationnelle"]},{"subject":"observational study method","values":["Cohorte"]}]},"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\"}]}","notes":""},"dataset_use":{"restrictions":"Utilisation possible des donn\u00e9es par des \u00e9quipes acad\u00e9miques Utilisation non possible des donn\u00e9es par des industriels","conditions":"Condition d'acc\u00e8s selon la charte du rhlf: acceptation du projet par le comit\u00e9 de pilotage qui \u00e9value l'interet, la faisabilit\u00e9, et les priorit\u00e9s du r\u00e9seau, puis information et formation des membres du r\u00e9seau lors des reunions pleni\u00e8res bianuelles en vue de r\u00e9aliser le protocole.","conf_dec":[{"txt":""}],"spec_perm":[{"txt":"","required":""}],"contact":[{"name":""}],"deposit_req":"","cit_req":""}}},"additional":{"versionLang":"fr","originLang":"fr","autoTranslation":false,"status":"Import\u00e9e","creationDate":"08-03-2013","lastUpdatedManual":"07-08-2014","isContributorPI":"","contributorName":"Anne-Catherine BACHOUD-LEVI","contributorAffiliation":"UNIVERSITE PARIS EST CRETEIL VAL DE MARNE (UPEC)","addTeamMember":"","obtainedAuthorization":{"otherAuthorizingAgency":[""]},"relatedDocument":[{"type":"","title":"Liste des publications dans Pubmed","link":"http:\/\/tinyurl.com\/Pubmed-RHL"}],"regulatoryRequirements":{"conformityDeclaration":""},"fundingAgent":{"fundingAgentType":[],"otherFundingAgentType":[]},"sponsor":{"sponsorType":["Public (France)"],"otherSponsorType":[""]},"governance":{"committee":""},"collaborations":{"networkConsortium":true},"theme":{"complementaryInformation":"","RareDiseases":""},"activeFollowUp":{"isActiveFollowUp":true,"followUpModeOther":""},"interventionalStudy":{"researchPurpose":[],"trialPhase":[],"interventionalStudyModel":"","isClinicalTrial":"","otherResearchPurpose":""},"isInclusionGroups":"","allocation":{"allocationMode":"","allocationUnit":""},"masking":{"maskingType":"","blindedMaskingDetails":[]},"arms":[],"intervention":[],"inclusionGroups":[],"collectionProcess":{"collectionModeDetails":"","collectionModeOther":""},"dataCollection":{"inclusionStrategyOther":"","samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"dataCollectionIntegration":{"isDataIntegration":false},"geographicalCoverage":{"geoDetail":"Cohorte multicentrique (14 centres) fran\u00e7aise"},"dataTypes":{"clinicalDataDetails":"Examen clinique \u00e0 l\u2019inclusion et au cours du suivi tous les ans","biologicalDataDetails":"Type de pr\u00e9l\u00e8vements r\u00e9alis\u00e9s : FS, bilan endocrinien, cholest\u00e9rol\u00e9mie","isDataInBiobank":false,"biobankContent":[],"biobankContentOther":"","dataTypeOther":""},"variableDictionnary":{"variableDictionnaryAvailable":"","variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":"","mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[]},"isHealthTheme":true,"fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}