{"doc_desc":{"title":"Registry of Congenital Malformations in Alsace (Certified Regisrtry)","idno":"FRESH-PEF62-en","producers":[{"name":"Danaluiza TIMBOLSCHI","affiliation":"LES HOPITAUX UNIVERSITAIRES DE STRASBOURG (HUS)"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF62-en","IDno":{"metadata_no":[{"agency":"PEF","code":"62"},{"agency":"FReSH","code":"FRESH-PEF62"}]},"title":"Registry of Congenital Malformations in Alsace (Certified Regisrtry)","alternate_title":"REMACA"},"study_authorization":{"agency":[]},"authoring_entity":[{"type":"investigator","name":"Danaluiza;TIMBOLSCHI","PILabo":"CHRU Strasbourg","affiliationName":"LES HOPITAUX UNIVERSITAIRES DE STRASBOURG (HUS)","extlink":[{"title":"","uri":"","role":"pi id"},{"title":"","uri":"","role":"pi id"},{"title":"SIREN","uri":"266700574","role":"organisation id"},{"title":"","uri":"","role":"labo id"}],"email":"danaluiza.timbolschi@chru-strasbourg.fr","isContact":"Yes"}],"oth_id":[{"name":""}],"production_statement":{"prod_place":"Epidemiology France Portal (PEF)","producers":[{"name":"UNIVERSITE DE STRASBOURG","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/00pg6eq24","role":"sponsor id"},{"title":"SIREN","uri":"130005457","role":"sponsor id"}],"role":"sponsor"}],"funding_agencies":[{"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":"SANTE PUBLIQUE FRANCE","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/00dfw9p58"},{"title":"SIREN","uri":"130022338"}]}]},"distribution_statement":{"contact":[{"name":"Danaluiza;TIMBOLSCHI","email":"danaluiza.timbolschi@chru-strasbourg.fr","type":"contact","affiliationName":"LES HOPITAUX UNIVERSITAIRES DE STRASBOURG (HUS)","contactPointLabo":"","extlink":[{"uri":"https:\/\/ror.org\/04bckew43","role":"organisation id","title":"ROR"},{"uri":"266700574","role":"organisation id","title":"SIREN"}]}]},"study_info":{"keywords":[{"keyword":"prenatal diagnosis"}],"topics":[{"topic":"Behavioral determinants: Addiction","vocab":"health determinant"},{"topic":"Socio-demographic and economic determinants","vocab":"health determinant"},{"topic":"Biological determinants: Genetic predisposition","vocab":"health determinant"},{"topic":"Healthcare system determinants: Use of care","vocab":"health determinant"},{"topic":"Socio-demographic and economic determinants: Employment","vocab":"health determinant"},{"topic":"Behavioral determinants","vocab":"health determinant"},{"topic":"Biological determinants","vocab":"health determinant"},{"topic":"Healthcare system determinants","vocab":"health determinant"}],"purpose":"From an epidemiological standpoint: 1) Determination of frequency (in terms of prevalence) and distribution of congenital malformation; 2) Identification of the risk factors of malformations (discomfort, environment, medications and toxic) 3) Determination of malformation \"\"clusters\"\" for decision aids in the event of a significant increase in the prevalence of a malformation type (monitoring-alert); 4) Making data available for epidemiological studies From a public health standpoint 1) Assessment of the impact of health policies in the field of perinatal medicine and the impact of regional obstetric practices; 2) Measuring the effectiveness of the prevention and establishment of support to inform healthcare professionals, especially in the field of teratology; 3) Assessment of healthcare requirements in perinatal medicine (birthing methods and locations); From a clinical standpoint: 1) Locating new malformation associations and even the identification of new symptoms; 2) Determination of modes of genetic disorder transmission; 3) Establishment of interactions among various active partners in prevention, socio-educational care in the region concerned.","abstract":"","coll_dates":[{"start":"2005-01-01","end":"2004-01-01"}],"nation":[{"name":"France","abbreviation":"fr","extLink":{"vocab":"ISO","vocabURI":"fr"}}],"geog_coverage":"['Grand Est']","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\": \"Infant, Newborn (birth to 28 days)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D007231\"\n            }\n        },\n        {\n            \"value\": \"Infant (28 days to 2 years)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D007223\"\n            }\n        }\n    ],\n    \"level_type_clusion_I\": \"People with disabilities\",\n    \"level_type_clusion_other\": \"\",\n    \"clusion_I\": \"Reported cases of malformations visible at the clinical and visceral examination, as well as identified or non-identified malformation syndromes, including those linked to chromosomal defects until two years old.. Recorded cases in the both Alsace d\u00e9partements and where parents are only residing both Alsace d\u00e9partements.\",\n    \"clusion_E\": \"\"\n}","data_kind":"['Clinical data','Biological data','Socio-demographic data','Paraclinical data (non-biological) : Imaging']","quality_statement":{"standards":[{"name":"['CIM10 for malformations and diseases, ATC code for medication.']","committee":"","governance":""}],"other_quality_statement":""}},"study_development":{"development_activity":[{"activity_type":"primary evaluation","activity_description":"Health event\/morbidity\r\nHealth event\/mortality\r\nHealth care consumption and services"}]},"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\":\"Other\",\"vocab\":\"CESSDA\"},\"value\":\"Other\"}"],"research_instrument":"Free access","sources":[],"target_sample_size":"[10000-20000[ individuals","response_rate":"About 700 cases per year since 2005. About 450 cases per year since 2005."},"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\"}]}"},"dataset_use":{"restrictions":"","conditions":"Individual data: on request.","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":"13-12-2010","lastUpdatedAuto":null,"lastUpdatedManual":"01-02-2012","isContributorPI":"No","contributorName":"Danaluiza TIMBOLSCHI","contributorAffiliation":"LES HOPITAUX UNIVERSITAIRES DE STRASBOURG (HUS)","addTeamMember":"","obtainedAuthorization":{"otherAuthorizingAgency":[]},"relatedDocument":[{"type":"","title":"Liste des publications dans Pubmed","link":"http:\/\/tinyurl.com\/PUBMED-RMCA"}],"regulatoryRequirements":{"conformityDeclaration":""},"fundingAgent":{"fundingAgentType":["Public (France)","Public (France)"],"otherFundingAgentType":["",""]},"sponsor":{"sponsorType":["Public (France)"],"otherSponsorType":[""]},"governance":{"committee":""},"collaborations":{"networkConsortium":""},"theme":{"complementaryInformation":"","RareDiseases":"Yes"},"activeFollowUp":{"isActiveFollowUp":"Yes","followUpModeOther":""},"interventionalStudy":{"researchPurpose":[],"trialPhase":[],"interventionalStudyModel":"","isClinicalTrial":"","otherResearchPurpose":""},"isInclusionGroups":"","allocation":{"allocationMode":"","allocationUnit":""},"masking":{"maskingType":"","blindedMaskingDetails":[]},"arms":[],"intervention":[],"inclusionGroups":[],"collectionProcess":{"collectionModeDetails":"Active collection from all of the public and private maternity wards in Alsace, from all of Paediatric, Infant Surgery, Genetics, Paediatric Cardiology, Neurosurgery and Ophthalmology departments, from the Multidisciplinary Centre for Prenatal Diagnosis, from cytogenics and foetopathology laboratories.","collectionModeOther":""},"dataCollection":{"inclusionStrategyOther":"","samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"dataCollectionIntegration":{"isDataIntegration":"No"},"geographicalCoverage":{"geoDetail":"Two d\u00e9partements in the Alsace region: Bas-Rhin and Haut-Rhin."},"dataTypes":{"clinicalDataDetails":"","biologicalDataDetails":"Cytogenetic, molecular biology.","isDataInBiobank":"No","biobankContent":[],"biobankContentOther":"","dataTypeOther":""},"variableDictionnary":{"variableDictionnaryAvailable":"","variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":"","mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[]},"isHealthTheme":"No","fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}