{"doc_desc":{"title":"Cohort of Children with Alpha 1 Antitrypsin Deficiency.","idno":"FRESH-PEF60120-en","producers":[{"name":"Alain LACHAUX","affiliation":"HOSPICES CIVILS DE LYON (HCL)"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF60120-en","IDno":{"metadata_no":[{"agency":"PEF","code":"60120"},{"agency":"FReSH","code":"FRESH-PEF60120"}]},"title":"Cohort of Children with Alpha 1 Antitrypsin Deficiency.","alternate_title":"DEFI-ALPHA"},"study_authorization":{"agency":[]},"authoring_entity":[{"type":"investigator","name":"Alain;LACHAUX","PILabo":"HCL - HOPITAL FEMME-MERE-ENFANTDE LYON \/ Service d\u2019H\u00e9patologie, Gastroent\u00e9rologie et Nutrition,","affiliationName":"HOSPICES CIVILS DE LYON (HCL)","extlink":[{"title":"","uri":"","role":"pi id"},{"title":"IdRef","uri":"069084106","role":"pi id"},{"title":"SIREN","uri":"266900273","role":"organisation id"},{"title":"","uri":"","role":"labo id"}],"email":"","isContact":"No"},{"type":"investigator","name":"Mathias;RUIZ","PILabo":"HCL - HOPITAL FEMME-MERE-ENFANTDE LYON \/ Service d\u2019H\u00e9patologie, Gastroent\u00e9rologie et Nutrition,","affiliationName":"HOSPICES CIVILS DE LYON (HCL)","extlink":[{"title":"","uri":"","role":"pi id"},{"title":"IdRef","uri":"221467874","role":"pi id"},{"title":"SIREN","uri":"266900273","role":"organisation id"},{"title":"","uri":"","role":"labo id"}],"email":"mathias.ruiz@chu-lyon.fr","isContact":"Yes"}],"oth_id":[{"name":"","type":"collaboration"}],"production_statement":{"prod_place":"Epidemiology France Portal (PEF)","producers":[{"name":"HOSPICES CIVILS DE LYON (HCL)","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/01502ca60","role":"sponsor id"},{"title":"SIREN","uri":"266900273","role":"sponsor id"}],"role":"sponsor"}],"funding_agencies":[{"name":"LABORATOIRE FRANCAIS DU FRACTIONNEMENT ET DES BIOTECHNOLOGIES (LFB)","extlink":[{"title":"SIREN","uri":"180036147"}]},{"name":"MINISTERE DU TRAVAIL, DE LA SANTE, DES SOLIDARITES ET DES FAMILLES","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/01wp0c315"},{"title":"SIREN","uri":"130016546"}]}]},"distribution_statement":{"contact":[{"name":"Lioara;MIRON-RESTIER","email":"lioara.restier@chu-lyon.fr","type":"contact","affiliationName":"HOSPICES CIVILS DE LYON (HCL)","contactPointLabo":"","extlink":[{"uri":"https:\/\/ror.org\/01502ca60","role":"organisation id","title":"ROR"},{"uri":"266900273","role":"organisation id","title":"SIREN"}]},{"name":"Mathias;RUIZ","email":"mathias.ruiz@chu-lyon.fr","type":"contact","affiliationName":"HOSPICES CIVILS DE LYON (HCL)","contactPointLabo":"","extlink":[{"uri":"https:\/\/ror.org\/01502ca60","role":"organisation id","title":"ROR"},{"uri":"266900273","role":"organisation id","title":"SIREN"}]}]},"study_info":{"keywords":[{"keyword":"occurrence of complications"},{"keyword":"ultrasound\/Doppler ultrasound"},{"keyword":"FibroScan"},{"keyword":"fibrosis test"},{"keyword":"endoscopy and oesophageal video capsule"},{"keyword":"platelets"},{"keyword":"transaminase and gamma-GT"},{"keyword":"Health episodes"},{"keyword":"factors"},{"keyword":"liver transplantation"}],"topics":[{"topic":"Hepatology","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/27c456a1-051a-42f6-b52a-3beff0487da7"}]},{"topic":"Diseases of the digestive system","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/1256772020","title":"CIM-11"}]},{"topic":"Biological determinants: Genetic predisposition","vocab":"health determinant"},{"topic":"Biological determinants","vocab":"health determinant"}],"purpose":"General objective: To investigate prognostic hepatic factors in A1AT deficient children. Investigation of factors associated with onset of complications: portal hypertension and its complications, severe liver failure, liver transplantation, abnormalities during respiratory function exploration. Secondary objectives: - To organise an active homogenised cohort follow-up. - To ensure that new cases are recorded. - To create a reference network in order to homogenise treatment.","abstract":"","coll_dates":[{"start":"2008-01-01"}],"nation":[{"name":"France","abbreviation":"fr","extLink":{"vocab":"ISO","vocabURI":"fr"}}],"geog_coverage":"","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\": \"Child, Preschool (2 to 5 years)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D002675\"\n            }\n        },\n        {\n            \"value\": \"Child (6 to 12 years)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D002648\"\n            }\n        }\n    ],\n    \"level_type_clusion_I\": \"Patients population\",\n    \"level_type_clusion_other\": \"\",\n    \"clusion_I\": \"Children with DA1AT born after 1989, regardless of phenotype. DA1AT is defined as an alpha-1 antitrypsin deficiency lower than 1,1 g\\\/l, and type ZZ or SZ MZ, MS, SS, detected by participating centres (service follow-up, or detected by corresponding neonatal services, family surveys, patient associations or dosage laboratories in the geographical area of participating services).\",\n    \"clusion_E\": \"\"\n}","data_kind":"['Clinical data','Biological data','Paraclinical data (non-biological) : Imaging']","quality_statement":{"standards":[{"name":"","committee":"","governance":""}],"other_quality_statement":""}},"study_development":{"development_activity":[{"activity_type":"primary evaluation","activity_description":"Health event\/morbidity\r\nHealth event\/mortality"}]},"method":{"data_collection":{"time_method":"","frequency":"","sampling_procedure":"['{\"concept\":{\"vocabURI\":\"Other\",\"vocab\":\"CESSDA\"},\"value\":\"Other\"}']","sample_frame":{"frame_unit":{"unit_type":"['Through organizations (health services or institutions, schools, businesses, etc.)']"}},"coll_mode":["{\"concept\":{\"vocabURI\":\"Interview\",\"vocab\":\"CESSDA\"},\"value\":\"Interview with the participant (including clinical)\"}"],"research_instrument":"Access on specific project only","sources":[{"sourceCitation":{"titlStmt":{"titl":""},"holdings":"","notes":{"subject":"source purpose","value":""}},"srcOrig":["Medico-administrative database"]}],"target_sample_size":"< 500 individuals","response_rate":"180"},"method_notes":"Observational Study","study_class":"Unknown","notes":[{"subject":"research type","values":["Observational Study"]},{"subject":"observational study method","values":["Cohort study"]}]},"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":"To be decided if data may be used by industrial teams Access for potentially interested LFB laboratories","conditions":"To be decided if data may be used by academic teams.","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":"08-03-2013","lastUpdatedAuto":null,"lastUpdatedManual":"17-02-2020","isContributorPI":"No","contributorName":"Mathias RUIZ","contributorAffiliation":"HOSPICES CIVILS DE LYON (HCL)","addTeamMember":"","obtainedAuthorization":{"otherAuthorizingAgency":[]},"relatedDocument":[],"regulatoryRequirements":{"conformityDeclaration":""},"fundingAgent":{"fundingAgentType":["Industry","Public (France)"],"otherFundingAgentType":["",""]},"sponsor":{"sponsorType":["Public (France)"],"otherSponsorType":[""]},"governance":{"committee":""},"collaborations":{"networkConsortium":""},"theme":{"complementaryInformation":"","RareDiseases":""},"activeFollowUp":{"isActiveFollowUp":"Yes","followUpModeOther":""},"interventionalStudy":{"researchPurpose":[],"trialPhase":[],"interventionalStudyModel":"","isClinicalTrial":"","otherResearchPurpose":""},"isInclusionGroups":"","allocation":{"allocationMode":"","allocationUnit":""},"masking":{"maskingType":"","blindedMaskingDetails":[]},"arms":[],"intervention":[],"inclusionGroups":[],"collectionProcess":{"collectionModeDetails":"Interview: Direct input Clinical examination: Direct input Biological analysis: Direct input","collectionModeOther":""},"dataCollection":{"inclusionStrategyOther":"","samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"dataCollectionIntegration":{"isDataIntegration":"Yes"},"geographicalCoverage":{"geoDetail":"Multicentric cohort throughout France (15 centres)"},"dataTypes":{"clinicalDataDetails":"","biologicalDataDetails":"Clinical records","isDataInBiobank":"Yes","biobankContent":[],"biobankContentOther":"","dataTypeOther":""},"variableDictionnary":{"variableDictionnaryAvailable":"","variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":"","mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[""]},"isHealthTheme":"Yes","fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}