{"doc_desc":{"title":"The French Gaucher disease registry","idno":"FRESH-PEF56-en","producers":[{"name":"Nadia BELMATOUG","affiliation":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF56-en","IDno":{"metadata_no":[{"agency":"PEF","code":"56"},{"agency":"FReSH","code":"FRESH-PEF56"}]},"title":"The French Gaucher disease registry","alternate_title":"FGDR"},"study_authorization":{"agency":[]},"authoring_entity":[{"type":"investigator","name":"Nadia;BELMATOUG","PILabo":"Assistance Publique des H\u00f4pitaux de \/ Centre de r\u00e9f\u00e9rence sur les maladies lysosomales (coordinatrice)","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","extlink":[{"title":"","uri":"","role":"pi id"},{"title":"IdRef","uri":"066013933","role":"pi id"},{"title":"SIREN","uri":"267500452","role":"organisation id"},{"title":"","uri":"","role":"labo id"}],"email":"nadia.belmatoug@aphp.fr","isContact":"Yes"},{"type":"investigator","name":"J\u00e9r\u00f4me;STIRNEMANN","PILabo":"Assistance Publique des H\u00f4pitaux de \/ Centre de R\u00e9f\u00e9rence des Maladies Lysosomales (CRML)Laboratoire de biostatistique (Pr France Mentr\u00e9) - INSERM - UMR 738 - H\u00f4pital Bichat","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","extlink":[{"title":"ORCID","uri":"0000-0001-9964-4452","role":"pi id"},{"title":"IdRef","uri":"076289680","role":"pi id"},{"title":"SIREN","uri":"267500452","role":"organisation id"},{"title":"","uri":"","role":"labo id"}],"email":"jerome.stirnemann@hug.ch","isContact":"Yes"}],"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":"ASSOC VAINCRE LES MALADIES LYSOSOMALES (VML)","extlink":[{"title":"SIREN","uri":"384719209"}]},{"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":"SANTE PUBLIQUE FRANCE","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/00dfw9p58"},{"title":"SIREN","uri":"130022338"}]}]},"distribution_statement":{"contact":[{"name":"Nadia;BELMATOUG","email":"nadia.belmatoug@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"}]},{"name":"J\u00e9r\u00f4me;STIRNEMANN","email":"jerome.stirnemann@hug.ch","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":"pharmacoeconomics"}],"topics":[{"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":"Internal medicine","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":"Rheumatology","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/bfb0bafd-7894-45ba-84fc-ddab5fd6c537"},{"title":"MeSH","uri":"http:\/\/id.nlm.nih.gov\/mesh\/D012219"}]},{"topic":"Sphingolipidosis","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/1875237176","title":"CIM-11"}]},{"topic":"Biological determinants: Genetic predisposition","vocab":"health determinant"},{"topic":"Biological determinants","vocab":"health determinant"}],"purpose":"- Carry out a descriptive epidemiological analysis of the population suffering from Gaucher's disease in France (prevalence estimated at 1\/100,000) which makes it possible to describe the natural history of the disease, apprehend and analyze the care practices, and evaluate them. - Develop lines of research: * Epidemiology and modeling of the change in biological and clinical markers with and without treatment * Pregnancy and Gaucher's disease * Parkinson's disease and Gaucher's disease * Monoclonal peak and Gaucher's disease * Type-3 Gaucher's disease * Gaucher's disease in children - Evaluate the efficacy and the tolerance of the treatments, optimize them and carry out pharmacoeconomic studies - Establish any genotype-phenotype relations - Detect predictive factors of complications and identify the biomarkers making it possible to follow the disease with and without treatment - Select the patients for new therapeutic options","abstract":"","coll_dates":[{"start":"1991-01-01"}],"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, Newborn (birth to 28 days)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D007231\"\n            }\n        },\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 patients diagnosed and\\\/or followed for Gaucher's disease over all of France. Gaucher's disease is confirmed by the dosage of the enzyme activity of the glucocerebrosidase.\",\n    \"clusion_E\": \"\"\n}","data_kind":"['Clinical data','Biological data','Socio-demographic 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\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\":\"Other\",\"vocab\":\"CESSDA\"},\"value\":\"Other\"}"],"research_instrument":"Access on specific project only","sources":[],"target_sample_size":"[500-1000[ individuals","response_rate":"560 (31\/01\/2011)"},"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":"Access subject to authorization from the scientific board of the registry, formed by the members of the Evaluation Committee of the Treatment for Gaucher's disease","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":"10-12-2010","lastUpdatedAuto":null,"lastUpdatedManual":"30-11-2012","isContributorPI":"No","contributorName":"Nadia BELMATOUG","contributorAffiliation":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","addTeamMember":"","obtainedAuthorization":{"otherAuthorizingAgency":[]},"relatedDocument":[{"type":"","title":"","link":"http:\/\/cetl.net\/IMG\/pdf\/Stirnemann_Registre_Gaucher_CETG_2010.pdf"},{"type":"","title":"","link":"http:\/\/www.ncbi.nlm.nih.gov\/pubmed?term"}],"regulatoryRequirements":{"conformityDeclaration":""},"fundingAgent":{"fundingAgentType":["Private non-profit","Public (France)","Public (France)"],"otherFundingAgentType":["","",""]},"sponsor":{"sponsorType":["Public (France)"],"otherSponsorType":[""]},"governance":{"committee":""},"collaborations":{"networkConsortium":""},"theme":{"complementaryInformation":"","RareDiseases":"Yes"},"activeFollowUp":{"isActiveFollowUp":"Yes","followUpModeOther":""},"interventionalStudy":{"researchPurpose":[],"trialPhase":[],"interventionalStudyModel":"","isClinicalTrial":"","otherResearchPurpose":""},"isInclusionGroups":"","allocation":{"allocationMode":"","allocationUnit":""},"masking":{"maskingType":"","blindedMaskingDetails":[]},"arms":[],"intervention":[],"inclusionGroups":[],"collectionProcess":{"collectionModeDetails":"pharmacoeconomics","collectionModeOther":""},"dataCollection":{"inclusionStrategyOther":"","samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"dataCollectionIntegration":{"isDataIntegration":"No"},"geographicalCoverage":{"geoDetail":"France"},"dataTypes":{"clinicalDataDetails":"Age, date of birth, sex, concomitant pathologies, ongoing treatments, Covid-19 vaccination data (vaccination schedule, recall(s), data on potential vaccine failure(s), weight, height, blood pressure + waist circumference for obese and\/or diabetic participants, tobacco use + IBD classification for IBD participants","biologicalDataDetails":"Diagnostics and biological follow-up of the disease","isDataInBiobank":"No","biobankContent":[],"biobankContentOther":"","dataTypeOther":""},"variableDictionnary":{"variableDictionnaryAvailable":"","variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":"","mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[]},"isHealthTheme":"Yes","fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}