{"doc_desc":{"title":"French congenital neutropenia registry","idno":"FRESH-PEF2441-en","producers":[{"name":"Jean DONADIEU","affiliation":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF2441-en","IDno":{"metadata_no":[{"agency":"PEF","code":"2441"},{"agency":"FReSH","code":"FRESH-PEF2441"}]},"title":"French congenital neutropenia registry","alternate_title":""},"study_authorization":{"agency":[]},"authoring_entity":[{"name":"Jean;DONADIEU","firstname":"Jean","lastname":"DONADIEU","type":"investigator","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/00pg5jh14","role":"organisation id"},{"title":"SIREN","uri":"267500452","role":"organisation id"}],"email":"jean.donadieu@aphp.fr","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","PILabo":"APHP \/ Service d\u2019H\u00e9mato Oncologie P\u00e9diatrique Centre de r\u00e9f\u00e9rence des d\u00e9ficits immunitaires h\u00e9r\u00e9ditaires","isContact":true}],"oth_id":[{"name":""}],"production_statement":{"prod_place":"Epidemiology France Portal (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":""}]},"distribution_statement":{"contact":[{"name":"Jean;DONADIEU","lastname":"DONADIEU","firstname":"Jean","type":"contact","email":"jean.donadieu@aphp.fr","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":"leukemic transformations"},{"keyword":"infectious risk"},{"keyword":"therapy"},{"keyword":"pharmacovigilance"},{"keyword":"risk factors"},{"keyword":"genetic"},{"keyword":"diagnosis"}],"topics":[{"topic":"Oncology","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":"Hematology","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":"Constitutional neutropaenia","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/87096615","title":"CIM-11"}]},{"topic":"Biological determinants: Genetic predisposition","vocab":"health determinant"},{"topic":"Biological determinants","vocab":"health determinant"}],"purpose":"The initial objective at the time of its creation is to ensure pharmacovigilance of the G-CSF received by these patients. It had nevertheless been designed as a disease registry, rather than a \"\"post-marketing\"\" treatment registry. The registry's objectives have since been extended: \u2022 Determination of risk factors of leukemic transformations in patients suffering from congenital neutropenia \u2022 Surveillance of access to genetic and antenatal diagnosis for diseases where genetic diagnoses are available \u2022 Surveillance of the progression of the infectious risk and therapy in patients suffering from congenital neutropenia \u2022 Pharmacovigilance of G-CSF: Benefit-risk ratio and search for optimum therapeutic approaches. \u2022 Evaluation of the efficacy and tolerance of bone marrow transplants in congenital neutropenia \u2022 Classification of congenital neutropenia \u2022 Determination of the correlation between the phenotype and genotype of patients. \u2022 Search for new genes involved in the molecular bases of these diseases \u2022 Mathematical modeling of granulopoiesis","abstract":"","coll_dates":[{"start":"1995-01-01"}],"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\": \"Infant (28 days to 2 years)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D007223\"\n            }\n        },\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            \"value\": \"Young Adult (19 to 24 years)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D055815\"\n            }\n        },\n        {\n            \"value\": \"Adult (25 to 44 years)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000328\"\n            }\n        },\n        {\n            \"value\": \"Middle Aged (45 to 64 years)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D008875\"\n            }\n        },\n        {\n            \"value\": \"Aged (65 to 79 years)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000368\"\n            }\n        },\n        {\n            \"value\": \"Aged, 80 and over (80 years and more)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000369\"\n            }\n        }\n    ],\n    \"level_type_clusion_I\": \"Patients population\",\n    \"level_type_clusion_other\": \"\",\n    \"clusion_I\": \"All of the criteria must be present: 1. Patient suffering from severe chronic neutropenia: - permanent neutropenia: absolute polynuclear rate < 0.5 109\\\/l, measured at at least three intervals over the three months prior to the study or absolute polynuclear rate < 1 109\\\/l, measured at at least three intervals over the three months prior to the study and presence of either a severe infection (septicemia- cellulitis- bacterial or mycotic pneumonia) or chronic gingivo-stomatitis. - intermittent neutropenia: After a surveillance period of at least six weeks, the neutrophilia rate must be less than 0.5 109 \\\/l in at least three blood counts. 2. Myelogram performed and cytological aspect compatible with the diagnosis (in the opinion of the registry's contact cytologist) 3. Subject aged over three months 4. Patients suffering from glycogen storage disease Ib, Shwachman Diamond syndrome or WHIM syndrome are all included 5. Consent by the patient and\\\/or his\\\/her parents  \",\n    \"clusion_E\": \"EXCLUSION CRITERIA (except glycogen storage disease Ib, Shwachman Diamond syndrome, WHIM syndrome or large granular lymphocytosis LGL): - all types of neutropenia caused by drugs - all medical histories with chemotherapy - medullary aplasia, irrespective of its etiology (idiopathic, Fanconi syndrome, etc.)- anemia < 8gr\\\/dl or thrombopenia (except inflammatory or iron-deficiency anemia, glycogen storage disease Ib and Shwachman Diamond syndrome). - progressive malignant pathology or medical history of malignant pathology - neutropenia linked to HIV infection - macrophage activation syndrome - initial myelodysplasia\"\n}","data_kind":"['Clinical data','Biological data','Paraclinical data (non-biological) : Imaging']","quality_statement":{"standards":[{"name":"['D70.0 D72.0 D72.9']","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\":\"Transcription\",\"vocab\":\"CESSDA\"},\"value\":\"Converting or copying information into a structured record\"}"],"research_instrument":"Access on specific project only","sources":[],"target_sample_size":"< 500 individuals","response_rate":"503 (in 12\/2009)"},"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":"","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":"14-03-2011","lastUpdatedAuto":null,"lastUpdatedManual":"23-01-2015","isContributorPI":false,"contributorName":"","contributorAffiliation":"","addTeamMember":"","obtainedAuthorization":{"otherAuthorizingAgency":[]},"relatedDocument":[{"type":"","title":"Liste des publications dans Pubmed","link":"http:\/\/tinyurl.com\/PUBMED-SNCregistry"}],"regulatoryRequirements":{"conformityDeclaration":""},"fundingAgent":{"fundingAgentType":["Industry","Industry","Public (France)","Private non-profit"],"otherFundingAgentType":["","","",""]},"sponsor":{"sponsorType":["Public (France)"],"otherSponsorType":[""]},"governance":{"committee":""},"collaborations":{"networkConsortium":""},"theme":{"complementaryInformation":"","RareDiseases":true},"activeFollowUp":{"isActiveFollowUp":true,"followUpModeOther":""},"interventionalStudy":{"researchPurpose":[],"trialPhase":[],"interventionalStudyModel":"","isClinicalTrial":"","otherResearchPurpose":""},"isInclusionGroups":"","allocation":{"allocationMode":"","allocationUnit":""},"masking":{"maskingType":"","blindedMaskingDetails":[]},"arms":[],"intervention":[],"inclusionGroups":[],"collectionProcess":{"collectionModeDetails":"The data is collected for prevalent and incident cases from clinical records obtained from pediatric hematology or general and specialist pediatric departments.","collectionModeOther":""},"dataCollection":{"inclusionStrategyOther":"","samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"dataCollectionIntegration":{"isDataIntegration":false},"geographicalCoverage":{"geoDetail":"All of french metropolitan territory"},"dataTypes":{"clinicalDataDetails":"","biologicalDataDetails":"hematology","isDataInBiobank":true,"biobankContent":[],"biobankContentOther":"","dataTypeOther":""},"variableDictionnary":{"variableDictionnaryAvailable":"","variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":"","mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[]},"isHealthTheme":true,"fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}