{"doc_desc":{"title":"Registre des Neutrop\u00e9nies Cong\u00e9nitales (registre qualifi\u00e9)","idno":"FRESH-PEF2441-fr","producers":[{"name":"Jean DONADIEU","affiliation":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF2441-fr","IDno":{"metadata_no":[{"agency":"PEF","code":"2441"},{"agency":"FReSH","code":"FRESH-PEF2441"}]},"title":"Registre des Neutrop\u00e9nies Cong\u00e9nitales (registre qualifi\u00e9)","alternate_title":""},"study_authorization":{"agency":[{"name":"CNIL"},{"name":"CESREES"}]},"authoring_entity":[{"type":"investigator","name":"Jean;DONADIEU","PILabo":"APHP \/ Service d\u2019H\u00e9mato Oncologie P\u00e9diatrique Centre de r\u00e9f\u00e9rence des d\u00e9ficits immunitaires h\u00e9r\u00e9ditaires","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","extlink":[{"title":"ORCID","uri":"0000-0002-4485-146X","role":"pi id"},{"title":"IdRef","uri":"073435910","role":"pi id"},{"title":"SIREN","uri":"267500452","role":"organisation id"},{"title":"","uri":"","role":"labo id"}],"email":"jean.donadieu@aphp.fr","isContact":"Oui"}],"oth_id":[{"name":""}],"production_statement":{"prod_place":"Portail Epid\u00e9miologie France (PEF)","producers":[{"name":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/00pg5jh14","role":"sponsor id"},{"title":"SIREN","uri":"267500452","role":"sponsor id"}],"role":"sponsor"}],"funding_agencies":[{"name":"AMGEN","extlink":[{"title":"SIREN","uri":"377998679"}]},{"name":"CHUGAI PHARMA FRANCE","extlink":[{"title":"SIREN","uri":"435074422"}]},{"name":"INSTITUT NECKER","extlink":[{"title":"SIREN","uri":"383056165"}]},{"name":"","extlink":[]}]},"distribution_statement":{"contact":[{"name":"Jean;DONADIEU","email":"jean.donadieu@aphp.fr","type":"contact","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","contactPointLabo":"","extlink":[{"uri":"https:\/\/ror.org\/00pg5jh14","role":"organisation id","title":"ROR"},{"uri":"267500452","role":"organisation id","title":"SIREN"}]}]},"study_info":{"keywords":[{"keyword":"pharmacovigilance"},{"keyword":"GCSF"},{"keyword":"transformations leuc\u00e9miques"},{"keyword":"neutrop\u00e9nies cong\u00e9nitales"},{"keyword":"risque infectieux"},{"keyword":"transplantations"},{"keyword":"moelle osseuse"},{"keyword":"facteurs de risque"},{"keyword":"diagnostic"},{"keyword":"prise en charge th\u00e9rapeutique"}],"topics":[{"topic":"Oncologie","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/5784b7f1-c7ce-49d9-9f38-aebcda0ff41d"},{"title":"MeSH","uri":"http:\/\/id.nlm.nih.gov\/mesh\/D008495"}]},{"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":"Neutrop\u00e9nie constitutionnelle","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/87096615","title":"CIM-11"}]},{"topic":"D\u00e9terminants biologiques : Pr\u00e9dispositions g\u00e9n\u00e9tiques","vocab":"health determinant"},{"topic":"D\u00e9terminants biologiques","vocab":"health determinant"}],"purpose":"L\u2019objectif initial au moment de sa cr\u00e9ation \u00e9tait d\u2019assurer la pharmacovigilance du GCSF re\u00e7u par ces patients. Il avait n\u00e9anmoins \u00e9t\u00e9 con\u00e7u comme un registre de maladies et non un registre de traitement \u00ab post marketing \u00bb. Par la suite, les objectifs du registre se sont \u00e9largis: \u2022 D\u00e9termination des facteurs de risque des transformations leuc\u00e9miques chez les patients porteurs de neutrop\u00e9nies cong\u00e9nitales \u2022 Surveillance de l\u2019acc\u00e8s au diagnostic g\u00e9n\u00e9tique et au diagnostic ant\u00e9natal pour les maladies qui disposent d\u2019un diagnostic g\u00e9n\u00e9tique \u2022 Surveillance de l\u2019\u00e9volution du risque infectieux, de la prise en charge th\u00e9rapeutique, des patients porteurs d\u2019une neutrop\u00e9nie cong\u00e9nitales \u2022 Pharmacovigilance du G-CSF : Rapport b\u00e9n\u00e9fice \u2013 risque et recherche des approches th\u00e9rapeutiques optimales. \u2022 Evaluation de l\u2019efficacit\u00e9 et de la tol\u00e9rance des transplantations de moelle osseuse dans les neutrop\u00e9nies cong\u00e9nitales \u2022 Classification des neutrop\u00e9nies cong\u00e9nitales \u2022 D\u00e9termination de corr\u00e9lation entre le ph\u00e9notype et le g\u00e9notype des patients. \u2022 Recherche de nouveaux g\u00e8nes impliqu\u00e9s dans les bases mol\u00e9culaires de ces pathologies \u2022 Mod\u00e9lisation math\u00e9matique de la granulopo\u00ef\u00e8se","abstract":"","coll_dates":[{"start":"1995-01-01"}],"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\": \"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            \"value\": \"Grand \u00e2ge (80 ans et plus)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000369\"\n            }\n        }\n    ],\n    \"level_type_clusion_I\": \"Patients\",\n    \"level_type_clusion_other\": \"\",\n    \"clusion_I\": \"Tous les crit\u00e8res doivent \u00eatre pr\u00e9sents : 1. Patient souffrant d'une neutrop\u00e9nie chronique s\u00e9v\u00e8re : - neutrop\u00e9nie permanente : taux absolu de polynucl\u00e9aires inf\u00e9rieur \u00e0 0,5 109\\\/l, mesur\u00e9 \u00e0 au moins trois reprises au cours des trois mois pr\u00e9c\u00e9dant l'\u00e9tude ou taux absolu de polynucl\u00e9aires inf\u00e9rieur \u00e0 1 109\\\/l, mesur\u00e9 \u00e0 au moins trois reprises au cours des trois mois pr\u00e9c\u00e9dant l\u2019\u00e9tude et pr\u00e9sence soit d\u2019une infection s\u00e9v\u00e8re (septic\u00e9mies- cellulites- pneumonie bact\u00e9riennes ou mycotiques) soit d\u2019un gingivo-stomatite chronique. - neutrop\u00e9nie intermittente : Apr\u00e8s une p\u00e9riode de surveillance d'au moins 6 semaines, le taux de neutrophiles doit \u00eatre sur au moins 3 h\u00e9mogrammes inf\u00e9rieur \u00e0 0,5 109 \\\/l. 2. My\u00e9logramme effectu\u00e9 et aspect cytologique compatible avec le diagnostic (selon l'avis du cytologiste r\u00e9f\u00e9rent du registre) 3. Sujet \u00e2g\u00e9 de plus de 3 mois 4. Les patients porteurs de Glycog\u00e9nose Ib, de maladie de Shwachman Diamond, de Syndrome de WHIM, sont tous inclus 5. Consentement par le patient et\\\/ou ses parents  \",\n    \"clusion_E\": \"(sauf Glycog\u00e9nose Ib, maladie de Shwachman Diamond, Syndrome de WHIM, hyperlymphocytoses \u00e0 grands grains LGL) : - toutes neutrop\u00e9nies d'origine m\u00e9dicamenteuse - tous ant\u00e9c\u00e9dents de chimioth\u00e9rapie - aplasie m\u00e9dullaire quelle que soit son \u00e9tiologie (idiopathique, maladie de Fanconi ) - an\u00e9mie inf\u00e9rieur \u00e0 8gr\\\/dl ou une thrombop\u00e9nie (sauf an\u00e9mie par carence martiale ou inflammatoire, sauf glycog\u00e9nose Ib et maladie de Shwachman Diamond) - pathologie maligne \u00e9volutive ou ant\u00e9c\u00e9dent de pathologie maligne - neutrop\u00e9nie li\u00e9 \u00e0 l'infection VIH - syndrome d'activation macrophagique - my\u00e9lodysplasie inaugurale\"\n}","data_kind":"['Donn\u00e9es cliniques','Donn\u00e9es paracliniques','Donn\u00e9es biologiques','Donn\u00e9es paracliniques (hors biologiques) : Imagerie']","quality_statement":{"standards":[{"name":"['D70.0D72.0D72.9']","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\nConsommation de soins\/services de sant\u00e9"}]},"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 individus","response_rate":"503 (in 12\/2009)"},"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":"Contacter le responsable scientifique","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":"14-03-2011","lastUpdatedAuto":null,"lastUpdatedManual":"23-01-2015","isContributorPI":"Non","contributorName":"Jean DONADIEU","contributorAffiliation":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","addTeamMember":"","obtainedAuthorization":{"otherAuthorizingAgency":["",""]},"relatedDocument":[{"type":"","title":"Liste des publications dans Pubmed","link":"http:\/\/tinyurl.com\/PUBMED-SNCregistry"}],"regulatoryRequirements":{"conformityDeclaration":""},"fundingAgent":{"fundingAgentType":["Industrie","Industrie","Public (France)","Priv\u00e9 \u00e0 but non lucratif"],"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":"Les donn\u00e9es sont recueillies pour les cas pr\u00e9valents et incidents \u00e0 partir des dossiers cliniques des services d'h\u00e9mato-p\u00e9diatriques, de p\u00e9diatrie g\u00e9n\u00e9rale ou sp\u00e9cialis\u00e9e.","collectionModeOther":""},"dataCollection":{"inclusionStrategyOther":"","samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"dataCollectionIntegration":{"isDataIntegration":"Non"},"geographicalCoverage":{"geoDetail":"Ensemble du territoire fran\u00e7ais m\u00e9tropolitain"},"dataTypes":{"clinicalDataDetails":"","biologicalDataDetails":"h\u00e9matologie","isDataInBiobank":"Oui","biobankContent":[],"biobankContentOther":"","dataTypeOther":""},"variableDictionnary":{"variableDictionnaryAvailable":"","variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":"","mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[]},"isHealthTheme":"Oui","fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}