{"doc_desc":{"title":"Cohorte d'enfants atteints de d\u00e9ficit en alpha 1 antitrypsine","idno":"FRESH-PEF60120-fr","producers":[{"name":"Alain LACHAUX","affiliation":"HOSPICES CIVILS DE LYON (HCL)"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF60120-fr","IDno":{"metadata_no":[{"agency":"PEF","code":"60120"},{"agency":"FReSH","code":"FRESH-PEF60120"}]},"title":"Cohorte d'enfants atteints de d\u00e9ficit en alpha 1 antitrypsine","alternate_title":"DEFI-ALPHA"},"study_authorization":{"agency":[{"name":"CNIL"},{"name":"CESREES"}]},"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":"Non"},{"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":"Oui"}],"oth_id":[{"name":"Implication dans un r\u00e9seau de cohorte : \u00e0 envisager avec les cohortes europ\u00e9ennes \"enfant\" et fran\u00e7aises \"adultes\".","type":"collaboration"}],"production_statement":{"prod_place":"Portail Epid\u00e9miologie France (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":"survenue complications"},{"keyword":"\u00e9chographie\/\u00e9chodoppler"},{"keyword":"fibroscan"},{"keyword":"test de fibrose"},{"keyword":"endoscopie et vid\u00e9ocapsule de l\u2019\u0153sophage"},{"keyword":"plaquettes"},{"keyword":"transaminases et gamma GT"},{"keyword":"\u00e9v\u00e9nements de sant\u00e9"},{"keyword":"facteurs"},{"keyword":"transplantation h\u00e9patique"}],"topics":[{"topic":"H\u00e9patologie","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/27c456a1-051a-42f6-b52a-3beff0487da7"}]},{"topic":"Maladies de l'appareil digestif","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/1256772020","title":"CIM-11"}]},{"topic":"D\u00e9terminants biologiques : Pr\u00e9dispositions g\u00e9n\u00e9tiques","vocab":"health determinant"},{"topic":"D\u00e9terminants biologiques","vocab":"health determinant"}],"purpose":"Objectif g\u00e9n\u00e9ral : Rechercher les facteurs pronostiques h\u00e9patiques chez les enfants atteints de DA1AT. Les facteurs \u00e0 \u00e9tudier sont la survenue de complications : hypertension portale et complications, insuffisance h\u00e9patique s\u00e9v\u00e8re, transplantation h\u00e9patique, survenue d\u2019anomalies \u00e0 l\u2019EFR. Objectifs secondaires : - Organiser un suivi actif homog\u00e9n\u00e9is\u00e9 de la cohorte. - Assurer l\u2019enregistrement des nouveaux cas. - Constituer un r\u00e9seau de r\u00e9f\u00e9rence pour homog\u00e9n\u00e9iser les prises en charge.","abstract":"","coll_dates":[{"start":"2008-01-01"}],"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\": \"Petite enfance (2 \u00e0 5 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D002675\"\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\": \"Enfants n\u00e9s apr\u00e8s 1989, atteints de DA1AT, quelque soit le ph\u00e9notype. le DA1AT est d\u00e9fini par un dosage d\u2019alpha 1 anti trypsine inf\u00e9rieur \u00e0 0,8 g\\\/l, et  de type ZZ ou SZ MZ, MS, SS, rep\u00e9r\u00e9s par les centres participants (suivis dans les services, ou rep\u00e9r\u00e9s par les services de n\u00e9onatologie correspondants, par les enqu\u00eates familiales, les associations de patients, les laboratoires de dosage de secteur g\u00e9ographique des services participants).\",\n    \"clusion_E\": \"\"\n}","data_kind":"['Donn\u00e9es cliniques','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 Gestion des donn\u00e9es manquantes par retour au dossier source Relance des m\u00e9decins pour r\u00e9aliser les visites de suivi Visites sur sites pour v\u00e9rification de la conformit\u00e9 des dossiers sources, des contacts pour assurer l\\'exhaustivit\u00e9Les 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":[{"sourceCitation":{"titlStmt":{"titl":""},"holdings":"","notes":{"subject":"source purpose","value":""}},"srcOrig":["Base 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