{"doc_desc":{"title":"Dyskin\u00e9sies ciliaires primitives : Identification de crit\u00e8res de s\u00e9v\u00e9rit\u00e9 sp\u00e9cifiques et recherche de corr\u00e9lation g\u00e9notype-ph\u00e9notype","idno":"FRESH-PEF73379-fr","producers":[{"name":"Sonia GUEGUEN","affiliation":"SORBONNE UNIVERSITE"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF73379-fr","IDno":{"metadata_no":[{"agency":"PEF","code":"73379"},{"agency":"FReSH","code":"FRESH-PEF73379"}]},"title":"Dyskin\u00e9sies ciliaires primitives : Identification de crit\u00e8res de s\u00e9v\u00e9rit\u00e9 sp\u00e9cifiques et recherche de corr\u00e9lation g\u00e9notype-ph\u00e9notype","alternate_title":"RaDiCo-DCP"},"study_authorization":{"agency":[{"name":"CNIL"},{"name":"CESREES"}]},"authoring_entity":[{"type":"investigator","name":"Bernard;MAITRE","PILabo":"French National Institute for Health and Medical Research (Inserm) \/ Inserm U 955","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","extlink":[{"title":"ORCID","uri":"0000-0002-8061-1252","role":"pi id"},{"title":"IdRef","uri":"027003019","role":"pi id"},{"title":"SIREN","uri":"180036048","role":"organisation id"},{"title":"RNSR","uri":"200919261B","role":"labo id"}],"email":"","isContact":"Non"}],"oth_id":[{"name":"Fili\u00e8re Maladies Rares pulmonaires RespiFil \/ European Reference Network ERN-LUNG","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":"","type":"contact"}]},"study_info":{"keywords":[],"topics":[{"topic":"Oto-rhino-laryngologie","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/9c3a57c5-68bd-4ee7-a9cc-aa8ba07bde94"},{"title":"MeSH","uri":"http:\/\/id.nlm.nih.gov\/mesh\/D010036"}]},{"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":"Pneumologie","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/f6e18c52-6087-4662-904c-5c4b8174e40e"},{"title":"MeSH","uri":"http:\/\/id.nlm.nih.gov\/mesh\/D015272"}]},{"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 cycle de l'acide citrique","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/658415697","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":"Syst\u00e8mes de soins et acc\u00e8s aux soins","vocab":"health determinant"},{"topic":"D\u00e9terminants socio-d\u00e9mographiques et \u00e9conomiques : Emploi","vocab":"health determinant"},{"topic":"D\u00e9terminants biologiques","vocab":"health determinant"}],"purpose":"L\u2019objectif principal est d\u2019identifier dans une grande cohorte de patients DCP, des facteurs pr\u00e9dictifs pr\u00e9coces de s\u00e9v\u00e9rit\u00e9 afin d\u2019am\u00e9liorer la prise en charge personnalis\u00e9e des patients.","abstract":"","coll_dates":[{"start":"2017-01-01","end":"2028-01-01"}],"nation":[{"name":"France","abbreviation":"fr","extLink":{"vocab":"ISO","vocabURI":"fr"}}],"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\": \"Nouveau-n\u00e9 (naissance \u00e0 28j)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D007231\"\n            }\n        },\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\": \"Tous les patients pr\u00e9valents et incidents inclus dans la cohorte RaDiCo-DCP doivent : \u2022Avoir un diagnostic confirm\u00e9 de DCP bas\u00e9 sur au moins un des crit\u00e8res de diagnostic suivant : syndrome de Kartagener (association de sinusites chroniques, de bronchiectasie et d\u2019un situs inversus), et\\\/ou mise en \u00e9vidence d\u2019anomalies sp\u00e9cifiques de l\u2019ultrastructure ciliaire, et\\\/ou identification de mutations non ambigu\u00ebs dans  un g\u00e8ne de DCP. \u2022Avoir au minimum une visite annuelle de suivi conform\u00e9ment \u00e0 la pratique courante.  Les patients correspondants aux crit\u00e8res suivants, ne pourront \u00eatre inclus : \u2022Patient avec un diagnostic de DCP non confirm\u00e9 ; \u2022Patient avec une pathologie concomitante \u00e9volutive pouvant interf\u00e9rer avec l\u2019\u00e9valuation des manifestations li\u00e9es \u00e0 la DCP.\",\n    \"clusion_E\": \"\"\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 paracliniques (hors biologiques) : Imagerie','Donn\u00e9es paracliniques (hors biologiques) : Exploration fonctionnelle']","quality_statement":{"standards":[{"name":"['HPO, ICD10, Snomed CT, Orpha Codes et ORDO, dictionnaire Th\u00e9riaque des m\u00e9dicaments']","committee":"","governance":""}],"other_quality_statement":"['Plan de Data Management et Plan de Validation des Donn\u00e9es. Management des donn\u00e9es en continu (r\u00e8gles de contr\u00f4le automatiques et syst\u00e8me de \"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\":\"Interview\",\"vocab\":\"CESSDA\"},\"value\":\"Entretien avec le participant (dont clinique)\"}","{\"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":"300 estim\u00e9s"},"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":"Charte d&#x27;Acc\u00e8s aux ressources de la cohorte. Demandes \u00e0 soumettre sous forme d&#x27;un synopsis de projet de recherche \u00e0 l&#x27;adresse dcp@radico.fr (sera examin\u00e9e sous 15aine par le Comit\u00e9 Scientifique de la cohorte RaDiCo-DCP). Les demandes d&#x27;acc\u00e8s aux donn\u00e9es RaDiCo-DCP (agr\u00e9g\u00e9es ou individuelles) seront examin\u00e9es par le Comit\u00e9 Scientifique suite \u00e0 la soumission d&#x27;un r\u00e9sum\u00e9 de Projet de Recherche Sp\u00e9cifique (PRS), tel que d\u00e9fini dans la Charte d&#x27;acc\u00e8s aux ressources.","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":"Couverture compl\u00e8te du territoire fran\u00e7ais par les Centres de R\u00e9f\u00e9rence et de Comp\u00e9tence Maladies Pulmonaires Rares"},"dataTypes":{"clinicalDataDetails":"Donn\u00e9es d\u00e9mographiques ; Evaluations g\u00e9n\u00e9rale, respiratoire et ORL ; Fertilit\u00e9 ; G\u00e9n\u00e9tique ; Th\u00e9rapeutiques","biologicalDataDetails":"Evaluation bact\u00e9riologique","isDataInBiobank":"Non","biobankContent":[],"biobankContentOther":"","dataTypeOther":""},"variableDictionnary":{"variableDictionnaryAvailable":"","variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":"","mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[""]},"isHealthTheme":"Oui","fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}