{"doc_desc":{"title":"Cohorte d\u2019enfants pr\u00e9sentant une anomalie chromosomique de structure","idno":"FRESH-PEF60091-fr","producers":[{"name":"Alain VERLOES","affiliation":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF60091-fr","IDno":{"metadata_no":[{"agency":"PEF","code":"60091"},{"agency":"FReSH","code":"FRESH-PEF60091"}]},"title":"Cohorte d\u2019enfants pr\u00e9sentant une anomalie chromosomique de structure","alternate_title":"CEPACS"},"study_authorization":{"agency":[{"name":"CNIL"}]},"authoring_entity":[{"type":"investigator","name":"Alain;VERLOES","PILabo":"INSERM \/ INSERM U676 (PHYSIOPATHOLOGIE, CONSEQUENCES FONCTIONNELLES ET NEUROPROTECTION DES ATTEINTES DU CERVEAU EN DEVELOPPEMENT) DEPARTEMENT DE GENETIQUE","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","extlink":[{"title":"ORCID","uri":"0000-0003-4819-0264","role":"pi id"},{"title":"IdRef","uri":"112692885","role":"pi id"},{"title":"SIREN","uri":"180036048","role":"organisation id"},{"title":"","uri":"","role":"labo id"}],"email":"alain.verloes@aphp.fr","isContact":"Oui"}],"oth_id":[{"name":"Implication dans un r\u00e9seau de cohorte : CEMARA \u2013 PLATEFORME PARTAGEE PAR 32 CENTRES DE REFERENCE MALADIES RARES","type":"collaboration"}],"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":"Alain;VERLOES","email":"alain.verloes@aphp.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":"d\u00e9tail du remaniement cytog\u00e9n\u00e9tique"},{"keyword":"d\u00e9veloppement moteur"},{"keyword":"mental"},{"keyword":"\u00e9valuation psychom\u00e9triques"},{"keyword":"scolarisation"},{"keyword":"prise en charge institutionnelle"},{"keyword":"\u00e9v\u00e9nements de sant\u00e9"},{"keyword":"physique"}],"topics":[{"topic":"Immunologie m\u00e9dicale","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/7a3cf568-46ba-4840-be8f-f22fc030139f"},{"title":"MeSH","uri":"http:\/\/id.nlm.nih.gov\/mesh\/D000486"}]},{"topic":"D\u00e9terminants biologiques : Pr\u00e9dispositions g\u00e9n\u00e9tiques","vocab":"health determinant"},{"topic":"D\u00e9terminants biologiques","vocab":"health determinant"}],"purpose":"Objectif g\u00e9n\u00e9ral : L\u2019objectif principal de cette cohorte est clinique 1) Acqu\u00e9rir des informations sur le d\u00e9veloppement moteur, mental et physique de ces patients porteurs de microremaniements, en fonction du type d\u2019anomalie d\u00e9cel\u00e9e 2) D\u00e9finir, gr\u00e2ce \u00e0 un suivi longitudinal les complications morbides (progr\u00e8s ou d\u00e9gradation neurologiques, \u00e9pilepsie, incidence des pathologies communes,\u2026) et la mortalit\u00e9 de ces patients 3) Pr\u00e9ciser les param\u00e8tres de leur prise en charge psycho-m\u00e9dico-sociale, la scolarisation et la socialisation de ces patients, et les cons\u00e9quences m\u00e9dico-\u00e9conomiques Objectif secondaire : \u00c9tablir, au niveau de la population fran\u00e7aise l\u2019incidence globale, la r\u00e9partition par type d\u2019anomalie et par r\u00e9gion chromosomique, l\u2019effet de variables d\u2019environnement tel l\u2019\u00e2ge parental, \u2026","abstract":"","coll_dates":[{"start":"2007-01-01"}],"nation":[{"name":"France","abbreviation":"fr","extLink":{"vocab":"ISO","vocabURI":"fr"}}],"geog_coverage":"","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\": \"Nouveau-n\u00e9 (naissance \u00e0 28j)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D007231\"\n            }\n        },\n        {\n            \"value\": \"Enfance (6 \u00e0 12 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D002648\"\n            }\n        },\n        {\n            \"value\": \"Adolescence (13 \u00e0 18 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000293\"\n            }\n        }\n    ],\n    \"level_type_clusion_I\": \"Patients\",\n    \"level_type_clusion_other\": \"\",\n    \"clusion_I\": \"Microremaniements chromosomiques de structure d\u00e9tect\u00e9s par cytog\u00e9n\u00e9tique mol\u00e9culaire (Fish ou CGH Array)\",\n    \"clusion_E\": \"\"\n}","data_kind":"['Donn\u00e9es cliniques','Donn\u00e9es rapport\u00e9es par le participant de l'\u00e9tude','Donn\u00e9es paracliniques','Donn\u00e9es biologiques','Donn\u00e9es paracliniques (hors biologiques) : Imagerie']","quality_statement":{"standards":[{"name":"","committee":"","governance":""}],"other_quality_statement":"['Pr\u00e9sence d\\'une requ\u00eate de coh\u00e9rence au moment de la saisie des donn\u00e9es informatiques et apr\u00e8s la saisie des donn\u00e9es informatiques Gestion des donn\u00e9es manquantes par retour au dossier source Relance des m\u00e9decins pour r\u00e9aliser les visites de suivi Relance des sujets pour r\u00e9aliser les visites de suivi R\u00e9alisation d\\'audits qualit\u00e9 internes tous les ans Les patients sont inform\u00e9s de l\\'utilisation de leur donn\u00e9es']"}},"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\":\"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":"1000"},"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\"}]}"},"dataset_use":{"restrictions":"Utilisation possible des donn\u00e9es par des \u00e9quipes acad\u00e9miques ? Oui Condition d'acc\u00e8s contractuelles Utilisation possible des donn\u00e9es par des industriels ? Non","conditions":"","conf_dec":[{"txt":""}],"spec_perm":[{"txt":"","required":""}],"contact":[{"name":""}],"deposit_req":"","cit_req":""},"notes":""}},"additional":{"IsImport":true,"versionLang":"fr","originLang":"fr","autoTranslation":false,"status":"imported","creationDate":"08-03-2013","lastUpdatedAuto":null,"lastUpdatedManual":"28-02-2014","isContributorPI":"Non","contributorName":"Alain VERLOES","contributorAffiliation":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","addTeamMember":"","obtainedAuthorization":{"otherAuthorizingAgency":[""]},"relatedDocument":[],"regulatoryRequirements":{"conformityDeclaration":""},"fundingAgent":{"fundingAgentType":[],"otherFundingAgentType":[]},"sponsor":{"sponsorType":["Public (France)"],"otherSponsorType":[""]},"governance":{"committee":""},"collaborations":{"networkConsortium":"Oui"},"theme":{"complementaryInformation":"","RareDiseases":""},"activeFollowUp":{"isActiveFollowUp":"Oui","followUpModeOther":""},"interventionalStudy":{"researchPurpose":[],"trialPhase":[],"interventionalStudyModel":"","isClinicalTrial":"","otherResearchPurpose":""},"isInclusionGroups":"","allocation":{"allocationMode":"","allocationUnit":""},"masking":{"maskingType":"","blindedMaskingDetails":[]},"arms":[],"intervention":[],"inclusionGroups":[],"collectionProcess":{"collectionModeDetails":"Entretiens : saisie \u00e0 partir d\u2019un questionnaire papier (saisie manuelle) Examens cliniques : \u00e9tape manuscrite (saisie manuelle) Examens biologiques : \u00e9tape manuscrite (saisie manuelle)","collectionModeOther":""},"dataCollection":{"inclusionStrategyOther":"","samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"dataCollectionIntegration":{"isDataIntegration":"Non"},"geographicalCoverage":{"geoDetail":"Cohorte multicentrique (34 centres) fran\u00e7aise"},"dataTypes":{"clinicalDataDetails":"Examen clinique \u00e0 l\u2019inclusion et au cours du suivi Informations recueillies lors de l'examen clinique : recueil indirect via les parents, le plus souvent (patients handicap\u00e9s mentaux)","biologicalDataDetails":"Type de pr\u00e9l\u00e8vements r\u00e9alis\u00e9s : caryotype et ADN collect\u00e9s afin diagnostique, dans le cadre du bilan \u00e9tiologique. les r\u00e9sultats de cet examen sont un pr\u00e9requis pour l\u2019inclusion dans la cohorte","isDataInBiobank":"Oui","biobankContent":[],"biobankContentOther":"","dataTypeOther":""},"variableDictionnary":{"variableDictionnaryAvailable":"","variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":"","mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[]},"isHealthTheme":"Oui","fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}