{"doc_desc":{"title":"European Cystinosis Cohort","idno":"FRESH-PEF73378-en","producers":[{"name":"Sonia GUEGUEN","affiliation":"SORBONNE UNIVERSITE"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF73378-en","IDno":{"metadata_no":[{"agency":"PEF","code":"73378"},{"agency":"FReSH","code":"FRESH-PEF73378"}]},"title":"European Cystinosis Cohort","alternate_title":"RaDiCo-ECYSCO"},"study_authorization":{"agency":[]},"authoring_entity":[{"name":"Aude;SERVAIS","firstname":"Aude","lastname":"SERVAIS","type":"investigator","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/02vjkv261","role":"organisation id"},{"title":"SIREN","uri":"180036048","role":"organisation id"}],"email":"aude.servais@aphp.fr","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","PILabo":"French National Institute for Health and Medical Research (Inserm) \/ Inserm U983","isContact":true}],"oth_id":[{"name":"Healthcare Network for Rare Diseases Orkid \/ European Reference Network ERK-NET","type":"collaboration"}],"production_statement":{"prod_place":"Epidemiology France Portal (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","lastname":"SERVAIS","firstname":"Aude","type":"contact","email":"aude.servais@aphp.fr","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":"Renal Diseases"},{"keyword":"Effects of treatments"},{"keyword":"Rare diseases"},{"keyword":"Quality of life"}],"topics":[{"topic":"Ophthalmology","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":"Paediatrics","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":"Nephrology","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":"Disorders of tyrosine metabolism","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/1842978338","title":"CIM-11"}]},{"topic":"Socio-demographic and economic determinants","vocab":"health determinant"},{"topic":"Biological determinants: Genetic predisposition","vocab":"health determinant"},{"topic":"Behavioral determinants","vocab":"health determinant"},{"topic":"Healthcare system determinants: Use of care","vocab":"health determinant"},{"topic":"Biological determinants","vocab":"health determinant"},{"topic":"Healthcare system determinants","vocab":"health determinant"}],"purpose":"The primary objective of the RaDiCo-ECYSCO cohort is to understand the natural history and major long-term manifestations and outcomes of cystinosis in paediatric and adult cases. Secondary Objectives are to: \u2022 Evaluate the impact of disease and treatments on patients\u2019 quality of life \u2022 Evaluate the effect of treatment on the complications \u2022 appraise the long-term safety of treatment and compliance Information Technology Objectives are to: \u2022 Develop and diffuse an electronic tool of data collection from various sources linked to a database integrating a system of management and follow-up of data-management allowing collection of data for cystinosis paediatric and adult patients. \u2022 Include data generated by patients and, where relevant, their parents and or carers. \u2022 Expand the cohort to cover a broader European population. \u2022 Promote the use of the RaDiCo-ECYSCO eCRF for mutualisation and harmonisation of data for cystinosis paediatric and adult patients within the expert sites. Improvement of standard care objectives are to: \u2022 Develop comprehensive evidence based guidelines for treatments as well as for follow-up of patients who will switch from paediatric to adult status, \u2022 Propose a system of audit against the guidelines ensuring overall care is of the highest standard as well as identifying areas of concern for actions.","abstract":"","coll_dates":[{"start":"2017-01-01","end":"2028-01-01"}],"nation":[{"name":"France","abbreviation":"fr","extLink":{"vocab":"ISO","vocabURI":"fr"}},{"name":"Belgium","abbreviation":"be","extLink":{"vocab":"ISO","vocabURI":"be"}},{"name":"Italy","abbreviation":"it","extLink":{"vocab":"ISO","vocabURI":"it"}},{"name":"Spain","abbreviation":"es","extLink":{"vocab":"ISO","vocabURI":"es"}},{"name":"Netherlands","abbreviation":"nl","extLink":{"vocab":"ISO","vocabURI":"nl"}},{"name":"Germany","abbreviation":"de","extLink":{"vocab":"ISO","vocabURI":"de"}}],"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\": \"The RaDiCo-ECYSCO Cohort inclusion criteria are the following: \u2022 Confirmed diagnosis of cystinosis (based on cystine dosage and\\\/or presence of crystals at eye examination and\\\/or molecular diagnosis) \u2022 Signed informed consent  \",\n    \"clusion_E\": \" Patients not able to give their informed consent. No othercriteria (patients with associated disease should be enrolled)\"\n}","data_kind":"['Clinical data','Participant-reported health data','Biological data','Socio-demographic data']","quality_statement":{"standards":[{"name":"['HPO, ICD10, Snomed CT, Orpha Codes and ORDO, Drug dictionary (DCIs)']","committee":"","governance":""}],"other_quality_statement":"['Continuous data management; Data Management Plan and Data Validation Plan. Native controls and Query system']"}},"study_development":{"development_activity":[{"activity_type":"primary evaluation","activity_description":"Health event\/morbidity\r\nHealth event\/mortality\r\nQuality of life\/health perception"}]},"method":{"data_collection":{"time_method":"","frequency":"","sampling_procedure":"['{\"concept\":{\"vocabURI\":\"Other\",\"vocab\":\"CESSDA\"},\"value\":\"Other\"}']","sample_frame":{"frame_unit":{"unit_type":"['Through organizations (health services or institutions, schools, businesses, etc.)']"}},"coll_mode":["{\"concept\":{\"vocabURI\":\"Transcription\",\"vocab\":\"CESSDA\"},\"value\":\"Converting or copying information into a structured record\"}"],"research_instrument":"Access on specific project only","sources":[{"sourceCitation":{"titlStmt":{"titl":""},"holdings":"","notes":{"subject":"source purpose","value":""}},"srcOrig":["Medico-administrative database"]}],"target_sample_size":"< 500 individuals","response_rate":"244"},"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 Charter. Access requests to RaDiCo-ECYSCO data (rough \/ structured), or to analytic reports will be examined by the scientific committee following submission of a Specific Research Project (SRP) synopsis, as defined in the Resource Access Charter.","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":"03-01-2017","lastUpdatedAuto":null,"lastUpdatedManual":"03-12-2024","isContributorPI":false,"contributorName":"","contributorAffiliation":"","addTeamMember":"","obtainedAuthorization":{"otherAuthorizingAgency":[]},"relatedDocument":[],"regulatoryRequirements":{"conformityDeclaration":""},"fundingAgent":{"fundingAgentType":["Public (France)"],"otherFundingAgentType":[""]},"sponsor":{"sponsorType":["Public (France)"],"otherSponsorType":[""]},"governance":{"committee":true},"collaborations":{"networkConsortium":true},"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":"eCRF using REDCap; Cloud based, secure by design web accessible platform. Certified Health Data Hosting resource","collectionModeOther":""},"dataCollection":{"inclusionStrategyOther":"","samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"dataCollectionIntegration":{"isDataIntegration":true},"geographicalCoverage":{"geoDetail":"European study: France, Belgium, Italy, Spain, The Netherlands and Germany"},"dataTypes":{"clinicalDataDetails":"data on medical history, clinical evaluation (renal function, eyes, endocrine, gastro-intestinal symptoms, muscle symptoms, neurological assessment and skin lesions), laboratory analyses (including cystine dosage), cysteamine and other treatments prescription, RRT, social life, and molecular analysis of patients suffering from cystinosis. It will include all retrospective data previously collected in the CEMARA database (CNIL authorisation number: 1187326 for France; regulatory requirements for Belgium and Italy were the responsibility of the participating local site) and new data from follow-up visit of prevalent patients as well as from incident patients (new inclusions).","biologicalDataDetails":"Laboratory analyses: Leucocyte cystine level (expressed as nanomoles of half-cystine per milligram of protein, normal <0.15) is measured before cysteamine administration, and determined and collected at least once a year. As the WBC cystine assay is complex and highly variable between laboratories, plasma cysteamine concentration will also be collected. Sites are encouraged to record all annual additional laboratory analyses, as exploratory objective. Other laboratory analyses are performed according to current care of patients (creatininemia, kaliemia, glycaemia, Thyroid Stimulating Hormone\u2026).","isDataInBiobank":false,"biobankContent":[],"biobankContentOther":"","dataTypeOther":""},"variableDictionnary":{"variableDictionnaryAvailable":"","variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":"","mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[""]},"isHealthTheme":true,"fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}