{"doc_desc":{"title":"Cohorte nationale sur le Syndrome d'Ehlers-Danlos vasculaire","idno":"FRESH-PEF73376-fr","producers":[{"name":"Sonia GUEGUEN","affiliation":"SORBONNE UNIVERSITE"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF73376-fr","IDno":{"metadata_no":[{"agency":"PEF","code":"73376"},{"agency":"FReSH","code":"FRESH-PEF73376"}]},"title":"Cohorte nationale sur le Syndrome d'Ehlers-Danlos vasculaire","alternate_title":"RaDiCo-SEDVasc"},"study_authorization":{"agency":[{"name":"CNIL"},{"name":"CESREES"}]},"authoring_entity":[{"type":"investigator","name":"Xavier;JEUNEMAITRE","PILabo":"French National Institute for Health and Medical Research (Inserm) \/ Inserm UMR S970","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","extlink":[{"title":"ORCID","uri":"0000-0001-5925-381X","role":"pi id"},{"title":"IdRef","uri":"083225358","role":"pi id"},{"title":"SIREN","uri":"180036048","role":"organisation id"},{"title":"RNSR","uri":"201019165T","role":"labo id"}],"email":"","isContact":"Non"}],"oth_id":[{"name":"R\u00e9seau Europ\u00e9en de R\u00e9f\u00e9rence Maladies Rares correspondant","type":"collaboration"}],"production_statement":{"prod_place":"Portail Epid\u00e9miologie France (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":"AGENCE NATIONALE DE LA RECHERCHE (ANR)","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/00rbzpz17"},{"title":"SIREN","uri":"130002504"}]}]},"distribution_statement":{"contact":[{"name":"","type":"contact"}]},"study_info":{"keywords":[],"topics":[{"topic":"Cardiologie et m\u00e9decine vasculaire","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/4455c187-2f2f-4cd1-a4dd-449f59d73b39"},{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/c42fc6ec-b216-4a24-9e9d-f5e781c175a0"},{"title":"MeSH","uri":"http:\/\/id.nlm.nih.gov\/mesh\/D002309"}]},{"topic":"P\u00e9diatrie","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/bf8aaaac-ddee-41cd-bb8a-c5a63de3fcbd"},{"title":"MeSH","uri":"http:\/\/id.nlm.nih.gov\/mesh\/D010372"}]},{"topic":"Syndrome d'Ehlers-Danlos","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/1122707206","title":"CIM-11"}]},{"topic":"D\u00e9terminants socio-d\u00e9mographiques et \u00e9conomiques","vocab":"health determinant"},{"topic":"D\u00e9terminants biologiques : Pr\u00e9dispositions g\u00e9n\u00e9tiques","vocab":"health determinant"},{"topic":"D\u00e9terminants comportementaux","vocab":"health determinant"},{"topic":"D\u00e9terminants li\u00e9s au syst\u00e8me de sant\u00e9 : Consommation des soins","vocab":"health determinant"},{"topic":"Syst\u00e8mes de soins et acc\u00e8s aux soins","vocab":"health determinant"},{"topic":"D\u00e9terminants socio-d\u00e9mographiques et \u00e9conomiques : Emploi","vocab":"health determinant"},{"topic":"D\u00e9terminants biologiques","vocab":"health determinant"},{"topic":"D\u00e9terminants li\u00e9s au syst\u00e8me de sant\u00e9","vocab":"health determinant"}],"purpose":"L\u2019objectif principal de cette \u00e9tude est de d\u00e9crire l\u2019\u00e9volution naturelle du syndrome d\u2019Ehlers-Danlos vasculaire, en particulier l\u2019ordre d\u2019apparition des diff\u00e9rents types de complications (art\u00e9rielles, digestives, pulmonaires et ut\u00e9rines).","abstract":"","coll_dates":[{"start":"2016-01-01","end":"2026-01-01"}],"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\": \"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            \"value\": \"Adulte (19 \u00e0 24 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D055815\"\n            }\n        },\n        {\n            \"value\": \"Adulte (25 \u00e0 44 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000328\"\n            }\n        },\n        {\n            \"value\": \"Adulte (45 \u00e0 64 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D008875\"\n            }\n        },\n        {\n            \"value\": \"Personne \u00e2g\u00e9e (65 \u00e0 79 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000368\"\n            }\n        },\n        {\n            \"value\": \"Grand \u00e2ge (80 ans et plus)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000369\"\n            }\n        }\n    ],\n    \"level_type_clusion_I\": \"Patients\",\n    \"level_type_clusion_other\": \"\",\n    \"clusion_I\": \"Les patients \u00e9ligibles \u00e0 cette \u00e9tude doivent remplir tous les crit\u00e8res suivants : - Les patients (adultes et enfants) pr\u00e9sentant un SEDv g\u00e9n\u00e9tiquement prouv\u00e9 (pr\u00e9sence d\u2019une mutation au niveau du g\u00e8ne COL3A1) ; - Les patients (ou leur tuteur l\u00e9gal) ayant donn\u00e9 leur consentement ou ne s\u2019opposant pas \u00e0 la collecte de leurs donn\u00e9es personnelles.\",\n    \"clusion_E\": \"\"\n}","data_kind":"['Donn\u00e9es cliniques','Donn\u00e9es rapport\u00e9es par le participant de l&#x27;\u00e9tude','Donn\u00e9es paracliniques','Donn\u00e9es biologiques','Donn\u00e9es \u00e9conomiques','Donn\u00e9es paracliniques (hors biologiques) : Imagerie']","quality_statement":{"standards":[{"name":"['HPO, ICD10, Snomed CT, Orpha Codes and ORDO, dictionnaire Th\u00e9riaque des m\u00e9dicaments, etc.)']","committee":"","governance":""}],"other_quality_statement":"['Plan de Data Management et Plan de Validation des Donn\u00e9es, contr\u00f4le continu, contr\u00f4les natifs automatiques et syst\u00e8me de e-queries']"}},"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\r\nConsommation de soins\/services de sant\u00e9\r\nQualit\u00e9 de vie\/sant\u00e9 per\u00e7ue"}]},"method":{"data_collection":{"time_method":"","frequency":"","sampling_procedure":"['{\"concept\":{\"vocabURI\":\"Other\",\"vocab\":\"CESSDA\"},\"value\":\"Autre\"}']","sample_frame":{"frame_unit":{"unit_type":""}},"coll_mode":["{\"concept\":{\"vocabURI\":\"Interview\",\"vocab\":\"CESSDA\"},\"value\":\"Entretien avec le participant (dont clinique)\"}","{\"concept\":{\"vocabURI\":\"Transcription\",\"vocab\":\"CESSDA\"},\"value\":\"Transcription et saisie d\u2019informations dans un enregistrement structur\u00e9\"}"],"research_instrument":"Acc\u00e8s restreint sur projet sp\u00e9cifique","sources":[],"target_sample_size":"< 500 individus","response_rate":"340 estim\u00e9s"},"method_notes":"Etude observationnelle","study_class":"Inconnu","notes":[{"subject":"research type","values":["Etude observationnelle"]},{"subject":"observational study method","values":["Registre de morbidit\u00e9"]}]},"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":"","conditions":"Les demandes d\u2019acc\u00e8s aux donn\u00e9es RaDiCo-SEDVasc (agr\u00e9g\u00e9es ou individuelles) seront examin\u00e9es par le Comit\u00e9 Scientifique suite \u00e0 la soumission d\u2019un r\u00e9sum\u00e9 de Projet de Recherche Sp\u00e9cifique (PRS), tel que d\u00e9fini dans la Charte d\u2019acc\u00e8s aux ressources.","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":"03-01-2017","lastUpdatedAuto":null,"lastUpdatedManual":"03-12-2024","isContributorPI":"Non","contributorName":"Sonia GUEGUEN","contributorAffiliation":"SORBONNE UNIVERSITE","addTeamMember":"","obtainedAuthorization":{"otherAuthorizingAgency":["",""]},"relatedDocument":[],"regulatoryRequirements":{"conformityDeclaration":""},"fundingAgent":{"fundingAgentType":["Public (France)"],"otherFundingAgentType":[""]},"sponsor":{"sponsorType":["Public (France)"],"otherSponsorType":[""]},"governance":{"committee":"Oui"},"collaborations":{"networkConsortium":"Oui"},"theme":{"complementaryInformation":"","RareDiseases":"Oui"},"activeFollowUp":{"isActiveFollowUp":"Oui","followUpModeOther":""},"interventionalStudy":{"researchPurpose":[],"trialPhase":[],"interventionalStudyModel":"","isClinicalTrial":"","otherResearchPurpose":""},"isInclusionGroups":"","allocation":{"allocationMode":"","allocationUnit":""},"masking":{"maskingType":"","blindedMaskingDetails":[]},"arms":[],"intervention":[],"inclusionGroups":[],"collectionProcess":{"collectionModeDetails":"eCRF en acc\u00e8s s\u00e9curis\u00e9 web, cloud s\u00e9curis\u00e9 et h\u00e9bergement HADS","collectionModeOther":""},"dataCollection":{"inclusionStrategyOther":"","samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"dataCollectionIntegration":{"isDataIntegration":"Non"},"geographicalCoverage":{"geoDetail":"France"},"dataTypes":{"clinicalDataDetails":"Ant\u00e9c\u00e9dents m\u00e9dico personnels et familiaux; caract\u00e9ristiques m\u00e9dicales \u00e0 l\u2019inclusion et tout au long de l\u2019\u00e9tude; type de mutation g\u00e9n\u00e9tique; ph\u00e9notype du patient","biologicalDataDetails":"H\u00e9moglobine, h\u00e9matocrite, leucocytes, plaquettes, sodium, potassium, calcium, chlorure, cr\u00e9atinine, glyc\u00e9mie \u00e0 jeun, albumine, prot\u00e9ine totale, triglyc\u00e9rides, cholest\u00e9rol total, HDL-cholest\u00e9rol, LDL-cholest\u00e9rol, ASAT, ALAT, gamma GT","isDataInBiobank":"Non","biobankContent":[],"biobankContentOther":"","dataTypeOther":""},"variableDictionnary":{"variableDictionnaryAvailable":"","variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":"","mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[]},"isHealthTheme":"Oui","fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}