{"study_desc":{"title_statement":{"idno":"FRESH-PEF56-fr","IDno":{"metadata_no":[{"agency":"PEF","code":"56"},{"agency":"FReSH","code":"FRESH-PEF56"}]},"title":"Registre Fran\u00e7ais de la maladie de Gaucher (registre qualifi\u00e9)","alternate_title":""},"study_authorization":{"agency":[{"name":"CNIL"}]},"authoring_entity":[{"name":"Nadia;BELMATOUG","firstname":"Nadia","lastname":"BELMATOUG","type":"investigator","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/00pg5jh14","role":"organisation id"},{"title":"SIREN","uri":"267500452","role":"organisation id"},{"uri":"066013933","role":"pi id","title":"IdRef"}],"email":"nadia.belmatoug@aphp.fr","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","PILabo":"Assistance Publique des H\u00f4pitaux de \/ Centre de r\u00e9f\u00e9rence sur les maladies lysosomales (coordinatrice)","isContact":true},{"name":"J\u00e9r\u00f4me;STIRNEMANN","firstname":"J\u00e9r\u00f4me","lastname":"STIRNEMANN","type":"investigator","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/00pg5jh14","role":"organisation id"},{"title":"SIREN","uri":"267500452","role":"organisation id"},{"uri":"0000-0001-9964-4452","role":"pi id","title":"ORCID"},{"uri":"076289680","role":"pi id","title":"IdRef"}],"email":"jerome.stirnemann@hug.ch","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","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","isContact":true}],"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":"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","lastname":"BELMATOUG","firstname":"Nadia","type":"contact","email":"nadia.belmatoug@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"}]},{"name":"J\u00e9r\u00f4me;STIRNEMANN","lastname":"STIRNEMANN","firstname":"J\u00e9r\u00f4me","type":"contact","email":"jerome.stirnemann@hug.ch","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":"pharmaco\u00e9conomie"},{"keyword":"registre"}],"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":"D006402"}]},{"topic":"M\u00e9decine interne","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/0d45044a-74d5-4bd7-b920-b92af3388576 | http:\/\/data.europa.eu\/8mn\/euroscivoc\/f0844378-9f30-4873-b19b-5bff8c184a36"},{"title":"MeSH","uri":"D007388"}]},{"topic":"Rhumatologie","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/bfb0bafd-7894-45ba-84fc-ddab5fd6c537"},{"title":"MeSH","uri":"D012219"}]},{"topic":"Sphingolipidose","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/1875237176","title":"CIM-11"}]},{"topic":"D\u00e9terminants biologiques : Pr\u00e9disposition g\u00e9n\u00e9tique","vocab":"health determinant"},{"topic":"D\u00e9terminants biologiques","vocab":"health determinant"}],"purpose":"- R\u00e9aliser une analyse \u00e9pid\u00e9miologique descriptive de la population atteints de la maladie de Gaucher en France (pr\u00e9valence estim\u00e9e \u00e0 1\/100.000) qui permet de d\u00e9crire l'histoire naturelle de la maladie, d'appr\u00e9hender et d'analyser les pratiques de soins ,et de les \u00e9valuer. - D\u00e9velopper des axes de recherche: * Epid\u00e9miologie et mod\u00e9lisation de l'\u00e9volution des marqueurs biologiques et cliniques avec et sans traitements * Grossesse et maladie de Gaucher * Maladie de Parkinson et maladie de Gaucher * Pic monoclonal et maladie de Gaucher * Maladie de Gaucher de type 3 * Maladie de Gaucher chez l'enfant - Evaluer l'efficacit\u00e9 et la tol\u00e9rance des traitements, les optimiser et effectuer des \u00e9tudes de pharmaco-\u00e9conomie - Etablir d'\u00e9ventuelles relations genotype-ph\u00e9notype - D\u00e9celer des facteurs pr\u00e9dictifs de complications et identifier les bio-marqueurs permettant de suivre la maladie avec et sans traitement - S\u00e9lectionner des patients pour de nouvelles options th\u00e9rapeutiques","abstract":"","coll_dates":[{"start":"1991-01-01"}],"nation":[{"name":"France","abbreviation":"fr","extLink":{"vocab":"ISO","vocabURI":"fr"}}],"geog_coverage":"","analysis_unit":"Individus","universe":"{\"level_sex_clusion_I\":[{\"value\":\"Masculin\",\"concept\":{\"vocab\":\"MeSH\",\"vocabURI\":\"D008297\"}},{\"value\":\"F\u00e9minin\",\"concept\":{\"vocab\":\"MeSH\",\"vocabURI\":\"D005260\"}}],\"level_age_clusion_I\":[{\"value\":\"Nouveau-n\u00e9 (naissance \u00e0 28j)\",\"concept\":{\"vocab\":\"MeSH\",\"vocabURI\":\"D007231\"}},{\"value\":\"Nourrisson (28j \u00e0 2 ans)\",\"concept\":{\"vocab\":\"MeSH\",\"vocabURI\":\"D007223\"}},{\"value\":\"Petite enfance (2 \u00e0 5 ans)\",\"concept\":{\"vocab\":\"MeSH\",\"vocabURI\":\"D002675\"}},{\"value\":\"Enfance (6 \u00e0 12 ans)\",\"concept\":{\"vocab\":\"MeSH\",\"vocabURI\":\"D002648\"}},{\"value\":\"Adolescence (13 \u00e0 18 ans)\",\"concept\":{\"vocab\":\"MeSH\",\"vocabURI\":\"D000293\"}},{\"value\":\"Adulte (19 \u00e0 24 ans)\",\"concept\":{\"vocab\":\"MeSH\",\"vocabURI\":\"D055815\"}},{\"value\":\"Adulte (25 \u00e0 44 ans)\",\"concept\":{\"vocab\":\"MeSH\",\"vocabURI\":\"D000328\"}},{\"value\":\"Adulte (45 \u00e0 64 ans)\",\"concept\":{\"vocab\":\"MeSH\",\"vocabURI\":\"D008875\"}},{\"value\":\"Personne \u00e2g\u00e9e (65 \u00e0 79 ans)\",\"concept\":{\"vocab\":\"MeSH\",\"vocabURI\":\"D000368\"}},{\"value\":\"Grand \u00e2ge (80 ans et plus)\",\"concept\":{\"vocab\":\"MeSH\",\"vocabURI\":\"D000369\"}}],\"level_type_clusion_I\":\"Patients\",\"level_type_clusion_other\":\"\",\"clusion_I\":\"Tous les patients diagnostiqu\u00e9s et\/ou suivis pour la maladie de gaucher sur l'ensemble du territoire fran\u00e7ais. La maladie de Gaucher est confirm\u00e9e par le dosage de l'activit\u00e9 enzymatique de la glucoc\u00e9r\u00e9brosidase.\",\"clusion_E\":\"\"}","data_kind":"['Donn\u00e9es cliniques','Donn\u00e9es paracliniques (hors biologiques)','Donn\u00e9es paracliniques (hors biologiques) : Imagerie','Donn\u00e9es biologiques','Donn\u00e9es socio-d\u00e9mographiques']","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\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\":\"Other\",\"vocab\":\"CESSDA\"},\"value\":\"Autre\"}"],"research_instrument":"Acc\u00e8s restreint sur projet sp\u00e9cifique","sources":[],"target_sample_size":"[500-1000[ individus","response_rate":"560 (31\/01\/2011)"},"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\"}]}","notes":""},"dataset_use":{"restrictions":"","conditions":"Acc\u00e8s soumis \u00e0 l'avis du comit\u00e9 scientifique du registre, constitu\u00e9 par les membres du Comit\u00e9 d'Evaluation du Traitement de la maladie de Gaucher","conf_dec":[{"txt":""}],"spec_perm":[{"txt":"","required":""}],"contact":[{"name":""}],"deposit_req":"","cit_req":""}}},"additional":{"versionLang":"fr","originLang":"fr","autoTranslation":false,"status":"Import\u00e9e","creationDate":"10-12-2010","lastUpdatedManual":"30-11-2012","isContributorPI":"","contributorName":"","contributorAffiliation":"","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":["Priv\u00e9 \u00e0 but non lucratif","Public (France)","Public (France)"],"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":"pharmaco\u00e9conomie","collectionModeOther":""},"dataCollection":{"inclusionStrategyOther":"","samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"dataCollectionIntegration":{"isDataIntegration":false},"geographicalCoverage":{"geoDetail":"France enti\u00e8re, DOM-TOM inclus."},"dataTypes":{"clinicalDataDetails":"","biologicalDataDetails":"Diagnostique et le suivi biologique de la maladie","isDataInBiobank":false,"biobankContent":[],"biobankContentOther":"","dataTypeOther":""},"variableDictionnary":{"variableDictionnaryAvailable":"","variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":"","mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[]},"isHealthTheme":true,"fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}