{"doc_desc":{"title":"National Thalassemia Registry","idno":"FRESH-PEF248-fr","producers":[{"name":"Catherine BADENS","affiliation":"ASSISTANCE PUBLIQUE HOPITAUX DE MARSEILLE (AP-HM)"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF248-fr","IDno":{"metadata_no":[{"agency":"PEF","code":"248"},{"agency":"FReSH","code":"FRESH-PEF248"}]},"title":"National Thalassemia Registry","alternate_title":"NaThalY"},"study_authorization":{"agency":[{"name":"CNIL"}]},"authoring_entity":[{"type":"investigator","name":"Catherine;BADENS","PILabo":"Assistance Publique-H\u00f4pitaux de Marseille \/ Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, H\u00f4pital d\u2019enfants de la Timone","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE MARSEILLE (AP-HM)","extlink":[{"title":"ORCID","uri":"0000-0001-9024-310X","role":"pi id"},{"title":"IdRef","uri":"102438382","role":"pi id"},{"title":"SIREN","uri":"261300081","role":"organisation id"},{"title":"","uri":"","role":"labo id"}],"email":"catherine.badens@ap-hm.fr","isContact":"Oui"}],"oth_id":[{"name":""}],"production_statement":{"prod_place":"Portail Epid\u00e9miologie France (PEF)","producers":[{"name":"ASSISTANCE PUBLIQUE HOPITAUX DE MARSEILLE (AP-HM)","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/002cp4060","role":"sponsor id"},{"title":"SIREN","uri":"261300081","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":"","extlink":[]}]},"distribution_statement":{"contact":[{"name":"Catherine;BADENS","email":"catherine.badens@ap-hm.fr","type":"contact","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE MARSEILLE (AP-HM)","contactPointLabo":"","extlink":[{"uri":"https:\/\/ror.org\/002cp4060","role":"organisation id","title":"ROR"},{"uri":"261300081","role":"organisation id","title":"SIREN"}]}]},"study_info":{"keywords":[{"keyword":"Cohorte"},{"keyword":"Registre clinique"},{"keyword":"thalass\u00e9mie"}],"topics":[{"topic":"H\u00e9matologie","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/9239f328-78c9-40a5-a0b9-8e66fd9b6245"},{"title":"MeSH","uri":"http:\/\/id.nlm.nih.gov\/mesh\/D006402"}]},{"topic":"M\u00e9decine interne","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/0d45044a-74d5-4bd7-b920-b92af3388576"},{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/f0844378-9f30-4873-b19b-5bff8c184a36"},{"title":"MeSH","uri":"http:\/\/id.nlm.nih.gov\/mesh\/D007388"}]},{"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":"Thalass\u00e9mies","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/330259189","title":"CIM-11"}]},{"topic":"D\u00e9terminants biologiques : Pr\u00e9dispositions g\u00e9n\u00e9tiques","vocab":"health determinant"},{"topic":"D\u00e9terminants biologiques","vocab":"health determinant"}],"purpose":"-Obtenir des donn\u00e9es \u00e9pid\u00e9miologiques nationales sur la maladie, en particulier sa morbidit\u00e9 et \u00e0 plus long terme sur sa mortalit\u00e9 qui refl\u00e8tent la qualit\u00e9 de la prise en charge globale des patients -Suivre dans le temps l\u2019\u00e9volution des th\u00e9rapeutiques, en particulier l\u2019utilisation croissante de nouveaux traitements comme la th\u00e9rapie g\u00e9nique et la diffusion des nouvelles techniques d\u2019\u00e9valuation de la surcharge tissulaire par l\u2019IRM cardiaque et h\u00e9patique. -Comparer les r\u00e9sultats du traitement conventionnel associant transfusions et ch\u00e9lation du fer et ceux de la transplantation de cellules souches h\u00e9matopo\u00ef\u00e9tiques -R\u00e9aliser des projets de recherche plus fondamentaux","abstract":"","coll_dates":[{"start":"2005-01-01"}],"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\": \"Nouveau-n\u00e9 (naissance \u00e0 28j)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D007231\"\n            }\n        },\n        {\n            \"value\": \"Nourrisson (28j \u00e0 2 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D007223\"\n            }\n        },\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            \"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    \"level_type_clusion_I\": \"Patients\",\n    \"level_type_clusion_other\": \"\",\n    \"clusion_I\": \"B\u00eata-thalass\u00e9mies majeures (TM) et interm\u00e9diaires (TI) incluant les h\u00e9t\u00e9rozygoties composites HbE\\\/thalass\u00e9mie et les patients thalass\u00e9miques ayant re\u00e7u une greffe de CSH. Le diagnostic de forme s\u00e9v\u00e8re de b\u00eata-thalass\u00e9mie est un diagnostic formellement \u00e9tabli sur des donn\u00e9es d\u2019\u00e9tude biochimique de l\u2019h\u00e9moglobine sans v\u00e9ritable diagnostic diff\u00e9rentiel. La distinction entre thalass\u00e9mie majeure et interm\u00e9diaire repose sur l\u2019association de 3 crit\u00e8res consensuels:  \u2022pour la TM :  An\u00e9mie s\u00e9v\u00e8re indiquant la mise en place d\u2019un r\u00e9gime transfusionnel  syst\u00e9matique ( au moins 8 s\u00e9ances transfusionnelles \\\/an) avant l'age de 4 ans.  \u2022pour la TI : An\u00e9mie  d'intensit\u00e9 moyenne ou mod\u00e9r\u00e9e sans besoins transfusionnels ou avec besoins transfusionnels occasionnels.  La date et les circonstances du diagnostic sont demand\u00e9es \u00e0 l\u2019inclusion et les caract\u00e9ristiques du traitement transfusionnel \u00e0 l\u2019inclusion et lors de chaque fiche de suivi. L\u2019identification des mutations b\u00eata-thalass\u00e9miques ou le type de mutation b\u00eata 0 ou b\u00eata +  sont   disponibles dans la majorit\u00e9 des cas et permettent un abord compl\u00e9mentaire m\u00eame si le diagnostic de TM ou de TI conserve une d\u00e9finition clinique. Les h\u00e9t\u00e9rozygoties composites HbE\\\/thalass\u00e9mie ont une d\u00e9finition biologique (biochimique ou mol\u00e9culaire) et peuvent conduire \u00e0 une forme interm\u00e9diaire ou majeure de thalass\u00e9mie : elles sont donc soumises \u00e0 la m\u00eame classification selon les m\u00eames crit\u00e8res cliniques (\u00e2ge au diagnostic et besoins transfusionnels).\",\n    \"clusion_E\": \"\"\n}","data_kind":"['Donn\u00e9es cliniques','Donn\u00e9es biologiques']","quality_statement":{"standards":[{"name":"","committee":"","governance":""}],"other_quality_statement":""}},"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\nAutres"}]},"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\":\"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":"[500-1000[ individus","response_rate":"287 (2008) 479 (2010) 515 (2012) 635 (2017) 754 (2020)"},"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":"Modalit\u00e9s d'acc\u00e8s aux donn\u00e9es pour des \u00e9quipes ext\u00e9rieures: soumission d'une demande au Conseil Scientifique par l'interm\u00e9diaire du responsable du registre (C. Badens). Charte de fonctionnement du registre mentionnant les modalit\u00e9s d'acc\u00e8s aux donn\u00e9es.","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":"14-01-2011","lastUpdatedAuto":null,"lastUpdatedManual":"01-10-2020","isContributorPI":"Non","contributorName":"Catherine BADENS","contributorAffiliation":"ASSISTANCE PUBLIQUE HOPITAUX DE MARSEILLE (AP-HM)","addTeamMember":"","obtainedAuthorization":{"otherAuthorizingAgency":[""]},"relatedDocument":[{"type":"","title":"","link":"http:\/\/www.haematologica.org\/cgi\/content\/full\/95\/5\/724"}],"regulatoryRequirements":{"conformityDeclaration":""},"fundingAgent":{"fundingAgentType":["Public (France)","Industrie"],"otherFundingAgentType":["",""]},"sponsor":{"sponsorType":["Public (France)"],"otherSponsorType":[""]},"governance":{"committee":""},"collaborations":{"networkConsortium":""},"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":"Fiche papier d'inclusion ou de suivi, envoy\u00e9e par courrier standard \u00e0 Marseille. Les donn\u00e9es sont ensuite valid\u00e9es puis saisies dans la base de donn\u00e9es.","collectionModeOther":""},"dataCollection":{"inclusionStrategyOther":"","samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"dataCollectionIntegration":{"isDataIntegration":"Non"},"geographicalCoverage":{"geoDetail":"France"},"dataTypes":{"clinicalDataDetails":"complications d'organes, traitements","biologicalDataDetails":"donn\u00e9es concernant l'an\u00e9mie, la surcharge en fer","isDataInBiobank":"Oui","biobankContent":[],"biobankContentOther":"","dataTypeOther":""},"variableDictionnary":{"variableDictionnaryAvailable":"","variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":"","mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[]},"isHealthTheme":"Oui","fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}