{"doc_desc":{"title":"Cohorte nationale sur les maladies d'empreinte et leurs cons\u00e9quences m\u00e9taboliques","idno":"FRESH-PEF73382-fr","producers":[{"name":"Sonia GUEGUEN","affiliation":"SORBONNE UNIVERSITE"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF73382-fr","IDno":{"metadata_no":[{"agency":"PEF","code":"73382"},{"agency":"FReSH","code":"FRESH-PEF73382"}]},"title":"Cohorte nationale sur les maladies d'empreinte et leurs cons\u00e9quences m\u00e9taboliques","alternate_title":"RaDiCo-IDMet"},"study_authorization":{"agency":[{"name":"CNIL"},{"name":"CPP"},{"name":"CESREES"}]},"authoring_entity":[{"type":"investigator","name":"Ir\u00e8ne;NETCHINE","PILabo":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (Inserm) \/ UMR-S 938","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","extlink":[{"title":"ORCID","uri":"0000-0003-1324-3389","role":"pi id"},{"title":"IdRef","uri":"066932882","role":"pi 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(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":"Endocrinologie","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/d1dd1bac-5313-4ab3-837f-4acd3ec521a7"},{"title":"MeSH","uri":"http:\/\/id.nlm.nih.gov\/mesh\/D004704"}]},{"topic":"Neurologie","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/c4793dfe-e80e-49dd-9fcc-a1a742de1b25"},{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/00a5c4f4-b7ee-41a4-bcdf-3a02e6be1660"},{"title":"MeSH","uri":"http:\/\/id.nlm.nih.gov\/mesh\/D009462"}]},{"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":"Psychiatrie","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/3de50dee-da1c-4791-a386-56bca24a5fed"},{"title":"MeSH","uri":"http:\/\/id.nlm.nih.gov\/mesh\/D011570"}]},{"topic":"Syndromes d'exc\u00e8s de croissance","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/2113355045","title":"CIM-11"}]},{"topic":"Syndrome de Prader-Willi","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/393773440","title":"CIM-11"}]},{"topic":"Syndrome d'Angelman","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/1106558408","title":"CIM-11"}]},{"topic":"Syndromes avec anomalies structurelles multiples, non d'origine environnementale","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/1106405864","title":"CIM-11"}]},{"topic":"Pseudohypoparathyro\u00efdie","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/1225154856","title":"CIM-11"}]},{"topic":"Diab\u00e8te sucr\u00e9 n\u00e9onatal transitoire","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/1596856936","title":"CIM-11"}]}],"purpose":"L\u2019objectif principal de cette \u00e9tude est de d\u00e9crire l\u2019histoire naturelle des maladies d'empreinte en fonction de leur profil m\u00e9tabolique.","abstract":"","coll_dates":[{"start":"2017-01-01","end":"2032-01-01"}],"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\": \"Patients (adultes et enfants) atteints d\u2019une maladie d'empreinte quelle que soit la gravit\u00e9 de la maladie, - avec un diagnostic confirm\u00e9 de maladie d'empreinte (bas\u00e9 sur un diagnostic mol\u00e9culaire) - avec un consentement \u00e9clair\u00e9 sign\u00e9 pour les adultes ou un consentement \u00e9clair\u00e9 sign\u00e9 des parents\\\/tuteurs de mineurs\\\/adultes prot\u00e9g\u00e9s.  Il n\u2019y a pas de crit\u00e8re de \",\n    \"clusion_E\": \"\"\n}","data_kind":"['Donn\u00e9es cliniques','Donn\u00e9es rapport\u00e9es par le participant de l'\u00e9tude','Donn\u00e9es paracliniques','Donn\u00e9es biologiques','Donn\u00e9es comportementales']","quality_statement":{"standards":[{"name":"['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":[],"target_sample_size":"[1000-10000[ individus","response_rate":"2000 patients 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":"","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":"Non"},"geographicalCoverage":{"geoDetail":"Couverture nationale \u00e0 travers des centres de r\u00e9f\u00e9rence et de comp\u00e9tence ax\u00e9s sur ces maladies."},"dataTypes":{"clinicalDataDetails":"Ant\u00e9c\u00e9dents m\u00e9dico personnels et familiaux, ph\u00e9notype du patient (manifestation clinique et morphologique de la maladie), ....","biologicalDataDetails":"Anomalies g\u00e9n\u00e9tiques \/ \u00e9pig\u00e9n\u00e9tiques identifi\u00e9es et leur localisation","isDataInBiobank":"Oui","biobankContent":[],"biobankContentOther":"","dataTypeOther":""},"variableDictionnary":{"variableDictionnaryAvailable":"","variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":"","mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[]},"isHealthTheme":"Oui","fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}