{"study_desc":{"title_statement":{"idno":"FRESH-PEF73376-en","IDno":{"metadata_no":[{"agency":"PEF","code":"73376"},{"agency":"FReSH","code":"FRESH-PEF73376"}]},"title":"National cohort on the vascular Ehlers-Danlos syndrome (SEDv)","alternate_title":"RaDiCo-SEDVasc"},"study_authorization":{"agency":[{"name":"CNIL"},{"name":"CESREES"}]},"authoring_entity":[{"name":"Xavier;JEUNEMAITRE","firstname":"Xavier","lastname":"JEUNEMAITRE","type":"investigator","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/02vjkv261","role":"organisation id"},{"title":"SIREN","uri":"180036048","role":"organisation id"},{"uri":"0000-0001-5925-381X","role":"pi id","title":"ORCID"},{"uri":"083225358","role":"pi id","title":"IdRef"}],"email":"","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","PILabo":"French National Institute for Health and Medical Research (Inserm) \/ Inserm UMR S970","isContact":false}],"oth_id":[{"name":"European Reference Network","type":"collaboration"}],"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":"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":"Cardiology and vascular medicine","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/4455c187-2f2f-4cd1-a4dd-449f59d73b39 | http:\/\/data.europa.eu\/8mn\/euroscivoc\/c42fc6ec-b216-4a24-9e9d-f5e781c175a0"},{"title":"MeSH","uri":"D002309"}]},{"topic":"Paediatrics","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/bf8aaaac-ddee-41cd-bb8a-c5a63de3fcbd"},{"title":"MeSH","uri":"D010372"}]},{"topic":"Ehlers-Danlos syndrome","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/1122707206","title":"CIM-11"}]},{"topic":"Socio-demographic and economic determinants","vocab":"health determinant"},{"topic":"Biological determinants: Genetic predisposition","vocab":"health determinant"},{"topic":"Behavioral determinants","vocab":"health determinant"},{"topic":"Healthcare system determinants: Use of care","vocab":"health determinant"},{"topic":"Healthcare system determinants: Access to care","vocab":"health determinant"},{"topic":"Socio-demographic and economic determinants: Employment","vocab":"health determinant"},{"topic":"Biological determinants","vocab":"health determinant"},{"topic":"Healthcare system determinants","vocab":"health determinant"}],"purpose":"The main objective of this study is to describe the natural course of vascular Ehlers-Danlos syndrome, in particular the order of appearance of different types of complications (arterial, digestive, pulmonary and uterine).","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":"Individuals","universe":"{\"level_sex_clusion_I\":[{\"value\":\"Male\",\"concept\":{\"vocab\":\"MeSH\",\"vocabURI\":\"D008297\"}},{\"value\":\"Female\",\"concept\":{\"vocab\":\"MeSH\",\"vocabURI\":\"D005260\"}}],\"level_age_clusion_I\":[{\"value\":\"Child (6 to 12 years)\",\"concept\":{\"vocab\":\"MeSH\",\"vocabURI\":\"D002648\"}},{\"value\":\"Adolescent (13 to 18 years)\",\"concept\":{\"vocab\":\"MeSH\",\"vocabURI\":\"D000293\"}},{\"value\":\"Young Adult (19 to 24 years)\",\"concept\":{\"vocab\":\"MeSH\",\"vocabURI\":\"D055815\"}},{\"value\":\"Adult (25 to 44 years)\",\"concept\":{\"vocab\":\"MeSH\",\"vocabURI\":\"D000328\"}},{\"value\":\"Middle Aged (45 to 64 years)\",\"concept\":{\"vocab\":\"MeSH\",\"vocabURI\":\"D008875\"}},{\"value\":\"Aged (65 to 79 years)\",\"concept\":{\"vocab\":\"MeSH\",\"vocabURI\":\"D000368\"}},{\"value\":\"Aged, 80 and over (80 years and more)\",\"concept\":{\"vocab\":\"MeSH\",\"vocabURI\":\"D000369\"}}],\"level_type_clusion_I\":\"Patients population\",\"level_type_clusion_other\":\"\",\"clusion_I\":\"Patients eligible for inclusion in this study have to fulfil all of the following criteria: - Patients (adults and children) with genetically-proven vEDS (presence of a pathogenic mutation at the COL3A1 gene); - Patients (or his\/her legal guardian) who are signed informed consent or does not oppose to his\/her personal data collection.\",\"clusion_E\":\"\"}","data_kind":"['Clinical data','Paraclinical data (non-biological)','Paraclinical data (non-biological) : Imaging','Biological data','Economic data','Participant-reported health data']","quality_statement":{"standards":[{"name":"['HPO, ICD10, Snomed CT, Orpha Codes and ORDO, Drug dictionary (DCIs)']","committee":"","governance":""}],"other_quality_statement":"['Continuous data management; Data Management Plan and Data Validation Plan. Native controls and Query system']"}},"study_development":{"development_activity":[{"activity_type":"primary evaluation","activity_description":"Health event\/morbidity\r\nHealth event\/mortality\r\nHealth care consumption and services\r\nQuality of life\/health perception"}]},"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)\"}","{\"concept\":{\"vocabURI\":\"Transcription\",\"vocab\":\"CESSDA\"},\"value\":\"Converting or copying information into a structured record\"}"],"research_instrument":"Access on specific project only","sources":[],"target_sample_size":"< 500 individuals","response_rate":"340 subjects targeted"},"method_notes":"Observational Study","study_class":"Unknown","notes":[{"subject":"research type","values":["Observational Study"]},{"subject":"observational study method","values":["Morbidity registry"]}]},"data_access":{"dataset_availability":{"access_place":"","complete":"","status":"{\"value\":\"Restricted access\",\"extLink\":[{\"title\":\"COAR\",\"uri\":\"http:\/\/purl.org\/coar\/access_right\/c_16ec\"}]}","notes":""},"dataset_use":{"restrictions":"","conditions":"Requests for access to RaDiCo-SEDVasc data (aggregated or individual) will be considered by the Scientific Committee following the submission of a summary of a specific research project, as defined in the Charter of access to resources.","conf_dec":[{"txt":""}],"spec_perm":[{"txt":"","required":""}],"contact":[{"name":""}],"deposit_req":"","cit_req":""}}},"additional":{"versionLang":"en","originLang":"en","autoTranslation":false,"status":"Imported","creationDate":"03-01-2017","lastUpdatedManual":"03-12-2024","isContributorPI":"","contributorName":"Sonia GUEGUEN","contributorAffiliation":"SORBONNE UNIVERSITE","addTeamMember":"","obtainedAuthorization":{"otherAuthorizingAgency":["",""]},"relatedDocument":[],"regulatoryRequirements":{"conformityDeclaration":""},"fundingAgent":{"fundingAgentType":["Public (France)"],"otherFundingAgentType":[""]},"sponsor":{"sponsorType":["Public (France)"],"otherSponsorType":[""]},"governance":{"committee":true},"collaborations":{"networkConsortium":true},"theme":{"complementaryInformation":"","RareDiseases":true},"activeFollowUp":{"isActiveFollowUp":true,"followUpModeOther":""},"interventionalStudy":{"researchPurpose":[],"trialPhase":[],"interventionalStudyModel":"","isClinicalTrial":"","otherResearchPurpose":""},"isInclusionGroups":"","allocation":{"allocationMode":"","allocationUnit":""},"masking":{"maskingType":"","blindedMaskingDetails":[]},"arms":[],"intervention":[],"inclusionGroups":[],"collectionProcess":{"collectionModeDetails":"eCRF using REDCap; Cloud based, secure by design web accessible platform. Certified Health Data Hosting resource","collectionModeOther":""},"dataCollection":{"inclusionStrategyOther":"","samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"dataCollectionIntegration":{"isDataIntegration":false},"geographicalCoverage":{"geoDetail":"European extension envisaged"},"dataTypes":{"clinicalDataDetails":"Medical personal and family history; medical characteristics at baseline and throughout the study; type of genetic mutation; patient phenotype","biologicalDataDetails":"Measurements like hemoglobin, hematocrit, leucocytes and platelets, sodium, potassium, calcium, chloride, creatinine, fasting blood glucose, albumin, total protein, triglycerides, total cholesterol, HDL-cholesterol, LDL-cholesterol ASAT, ALAT, gamma GT","isDataInBiobank":false,"biobankContent":[],"biobankContentOther":"","dataTypeOther":""},"variableDictionnary":{"variableDictionnaryAvailable":"","variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":"","mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[]},"isHealthTheme":true,"fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}