{"doc_desc":{"title":"Cohorte Europ\u00e9enne de Cystinose","idno":"FRESH-PEF73378-fr","producers":[{"name":"Sonia GUEGUEN","affiliation":"SORBONNE UNIVERSITE"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF73378-fr","IDno":{"metadata_no":[{"agency":"PEF","code":"73378"},{"agency":"FReSH","code":"FRESH-PEF73378"}]},"title":"Cohorte Europ\u00e9enne de Cystinose","alternate_title":"RaDiCo-ECYSCO"},"study_authorization":{"agency":[{"name":"CNIL"},{"name":"CESREES"}]},"authoring_entity":[{"type":"investigator","name":"Aude;SERVAIS","PILabo":"French National Institute for Health and Medical Research (Inserm) \/ Inserm U983","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","extlink":[{"title":"ORCID","uri":"0000-0002-8165-8212","role":"pi id"},{"title":"IdRef","uri":"076724042","role":"pi id"},{"title":"SIREN","uri":"180036048","role":"organisation id"},{"title":"","uri":"","role":"labo id"}],"email":"aude.servais@aphp.fr","isContact":"Oui"}],"oth_id":[{"name":"Fili\u00e8re de Sant\u00e9 Maladie Rare Orkid \/ R\u00e9seau Europ\u00e9en de R\u00e9f\u00e9rence ERK-NET","type":"collaboration"}],"production_statement":{"prod_place":"Portail Epid\u00e9miologie France (PEF)","producers":[{"name":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/02vjkv261","role":"sponsor id"},{"title":"SIREN","uri":"180036048","role":"sponsor id"}],"role":"sponsor"}],"funding_agencies":[{"name":"AGENCE NATIONALE DE LA RECHERCHE (ANR)","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/00rbzpz17"},{"title":"SIREN","uri":"130002504"}]}]},"distribution_statement":{"contact":[{"name":"Aude;SERVAIS","email":"aude.servais@aphp.fr","type":"contact","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","contactPointLabo":"","extlink":[{"uri":"https:\/\/ror.org\/02vjkv261","role":"organisation id","title":"ROR"},{"uri":"180036048","role":"organisation id","title":"SIREN"}]}]},"study_info":{"keywords":[{"keyword":"Maladies r\u00e9nales"},{"keyword":"Effets des traitements"},{"keyword":"Maladies rares"},{"keyword":"Qualit\u00e9 de vie"}],"topics":[{"topic":"Ophtalmologie","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/621ef1ce-2ebd-43d9-a6c7-ecd962d27269"},{"title":"MeSH","uri":"http:\/\/id.nlm.nih.gov\/mesh\/D009885"}]},{"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":"N\u00e9phrologie","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/3961e9d2-ab3b-451b-b246-20fc0ec3b0c4"},{"title":"MeSH","uri":"http:\/\/id.nlm.nih.gov\/mesh\/D009398"}]},{"topic":"Troubles du m\u00e9tabolisme de la tyrosine","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/1842978338","title":"CIM-11"}]},{"topic":"D\u00e9terminants socio-d\u00e9mographiques et \u00e9conomiques","vocab":"health determinant"},{"topic":"D\u00e9terminants biologiques : Pr\u00e9dispositions g\u00e9n\u00e9tiques","vocab":"health determinant"},{"topic":"D\u00e9terminants comportementaux","vocab":"health determinant"},{"topic":"D\u00e9terminants li\u00e9s au syst\u00e8me de sant\u00e9 : Consommation des soins","vocab":"health determinant"},{"topic":"D\u00e9terminants biologiques","vocab":"health determinant"},{"topic":"D\u00e9terminants li\u00e9s au syst\u00e8me de sant\u00e9","vocab":"health determinant"}],"purpose":"Objectif principal Comprendre l'histoire naturelle et les principales manifestations et cons\u00e9quences \u00e0 long terme de la cystinose chez les enfants et les adultes Objectifs secondaires \u00c9valuer l'effet du traitement sur les complications \u00c9valuer la s\u00e9curit\u00e9 \u00e0 long terme et l\u2019observance du traitement \u00c9valuer l\u2019impact de la maladie et des traitements sur la qualit\u00e9 de vie des patients Am\u00e9lioration des soins standards \u00c9laborer des lignes directrices pour les traitements ainsi que pour le suivi des patients qui passeront du statut de p\u00e9diatrique \u00e0 celui d'adulte","abstract":"","coll_dates":[{"start":"2017-01-01","end":"2028-01-01"}],"nation":[{"name":"France","abbreviation":"fr","extLink":{"vocab":"ISO","vocabURI":"fr"}},{"name":"Belgique","abbreviation":"be","extLink":{"vocab":"ISO","vocabURI":"be"}},{"name":"Italie","abbreviation":"it","extLink":{"vocab":"ISO","vocabURI":"it"}},{"name":"Espagne","abbreviation":"es","extLink":{"vocab":"ISO","vocabURI":"es"}},{"name":"Pays-Bas","abbreviation":"nl","extLink":{"vocab":"ISO","vocabURI":"nl"}},{"name":"Allemagne","abbreviation":"de","extLink":{"vocab":"ISO","vocabURI":"de"}}],"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\": \"Les crit\u00e8res d'inclusion de la cohorte RaDiCo-ECYSCO sont les suivants : \u2022 Diagnostic confirm\u00e9 de la cystinose (bas\u00e9 sur le dosage de la cystine et\\\/ou la pr\u00e9sence de cristaux lors de l'examen ophtalmologique et\\\/ou le diagnostic mol\u00e9culaire). \u2022 Consentement \u00e9clair\u00e9 sign\u00e9.  \",\n    \"clusion_E\": \"\u2022 Patients incapables de donner leur consentement \u00e9clair\u00e9 Aucun autre crit\u00e8re de  (les patients pr\u00e9sentant une maladie associ\u00e9e peuvent \u00eatre inclus)\"\n}","data_kind":"['Donn\u00e9es cliniques','Donn\u00e9es rapport\u00e9es par le participant de l&#x27;\u00e9tude','Donn\u00e9es paracliniques','Donn\u00e9es biologiques','Donn\u00e9es socio-d\u00e9mographiques']","quality_statement":{"standards":[{"name":"['HPO, ICD10, Snomed CT, Orpha Codes and ORDO, dictionnaire Th\u00e9riaque des m\u00e9dicaments, etc.)']","committee":"","governance":""}],"other_quality_statement":"['Plan de Data Management et Plan de Validation des Donn\u00e9es, contr\u00f4le continu, contr\u00f4les natifs automatiques et syst\u00e8me de e-queries']"}},"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\nQualit\u00e9 de vie\/sant\u00e9 per\u00e7ue"}]},"method":{"data_collection":{"time_method":"","frequency":"","sampling_procedure":"['{\"concept\":{\"vocabURI\":\"Other\",\"vocab\":\"CESSDA\"},\"value\":\"Autre\"}']","sample_frame":{"frame_unit":{"unit_type":"['Via des structures (services ou \u00e9tablissements de sant\u00e9, \u00e9coles, entreprises\u2026)']"}},"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":[{"sourceCitation":{"titlStmt":{"titl":""},"holdings":"","notes":{"subject":"source purpose","value":""}},"srcOrig":["Base m\u00e9dico-administrative"]}],"target_sample_size":"< 500 individus","response_rate":"244"},"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":"","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":"03-01-2017","lastUpdatedAuto":null,"lastUpdatedManual":"03-12-2024","isContributorPI":"Non","contributorName":"Sonia GUEGUEN","contributorAffiliation":"SORBONNE UNIVERSITE","addTeamMember":"","obtainedAuthorization":{"otherAuthorizingAgency":["",""]},"relatedDocument":[],"regulatoryRequirements":{"conformityDeclaration":""},"fundingAgent":{"fundingAgentType":["Public (France)"],"otherFundingAgentType":[""]},"sponsor":{"sponsorType":["Public (France)"],"otherSponsorType":[""]},"governance":{"committee":"Oui"},"collaborations":{"networkConsortium":"Oui"},"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":"eCRF en acc\u00e8s s\u00e9curis\u00e9 web, cloud s\u00e9curis\u00e9 et h\u00e9bergement HADS","collectionModeOther":""},"dataCollection":{"inclusionStrategyOther":"","samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"dataCollectionIntegration":{"isDataIntegration":"Oui"},"geographicalCoverage":{"geoDetail":"\u00c9tude europ\u00e9enne : France, Belgique, Italie, Espagne, Pays-Bas et Allemagne"},"dataTypes":{"clinicalDataDetails":"Les donn\u00e9es concerneront l'historique m\u00e9dical, l'\u00e9valuation clinique (fonction r\u00e9nale, yeux, sympt\u00f4mes endocriniens, gastro-intestinaux, musculaires, \u00e9valuation neurologique et l\u00e9sions cutan\u00e9es), les analyses de laboratoire (y compris le dosage de la cystine), la prescription de cyst\u00e9amine et d'autres traitements, les traitements de suppl\u00e9ance r\u00e9nale, la vie sociale, et l'analyse mol\u00e9culaire des patients atteints de cystinose. Cela inclura toutes les donn\u00e9es r\u00e9trospectives pr\u00e9c\u00e9demment collect\u00e9es dans la base de donn\u00e9es CEMARA (num\u00e9ro d'autorisation de la CNIL : 1187326 pour la France ; les exigences r\u00e9glementaires pour la Belgique et l'Italie \u00e9taient de la responsabilit\u00e9 du site local participant) ainsi que de nouvelles donn\u00e9es issues des visites de suivi des patients pr\u00e9valents et des nouveaux patients incidents (nouvelles inclusions).","biologicalDataDetails":"Analyses de laboratoire : Le taux de cystine dans les leucocytes (exprim\u00e9 en nanomoles de demi-cystine par milligramme de prot\u00e9ine, normal <0,15) est mesur\u00e9 avant l'administration de la cyst\u00e9amine et d\u00e9termin\u00e9 et collect\u00e9 au moins une fois par an. Comme le dosage de la cystine dans les leucocytes est complexe et tr\u00e8s variable entre les laboratoires, la concentration plasmatique de cyst\u00e9amine sera \u00e9galement collect\u00e9e. Les sites sont encourag\u00e9s \u00e0 enregistrer toutes les analyses de laboratoire annuelles suppl\u00e9mentaires, \u00e0 titre d'objectif exploratoire. D'autres analyses de laboratoire sont r\u00e9alis\u00e9es conform\u00e9ment aux soins courants des patients (cr\u00e9atinin\u00e9mie, kali\u00e9mie, glyc\u00e9mie, hormone stimulant la thyro\u00efde\u2026).","isDataInBiobank":"Non","biobankContent":[],"biobankContentOther":"","dataTypeOther":""},"variableDictionnary":{"variableDictionnaryAvailable":"","variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":"","mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[""]},"isHealthTheme":"Oui","fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}