{"doc_desc":{"title":"National cohort on imprinting disorders and their metabolic consequences","idno":"FRESH-PEF73382-en","producers":[{"name":"Sonia GUEGUEN","affiliation":"SORBONNE UNIVERSITE"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF73382-en","IDno":{"metadata_no":[{"agency":"PEF","code":"73382"},{"agency":"FReSH","code":"FRESH-PEF73382"}]},"title":"National cohort on imprinting disorders and their metabolic consequences","alternate_title":"RaDiCo-IDMet"},"study_authorization":{"agency":[]},"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 id"},{"title":"SIREN","uri":"180036048","role":"organisation 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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":"Endocrinology","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":"Neurology","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":"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":"Psychiatry","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":"Overgrowth syndromes","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/2113355045","title":"CIM-11"}]},{"topic":"Prader-Willi syndrome","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/393773440","title":"CIM-11"}]},{"topic":"Angelman syndrome","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/1106558408","title":"CIM-11"}]},{"topic":"Syndromes with multiple structural anomalies, not of environmental origin","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/1106405864","title":"CIM-11"}]},{"topic":"Pseudohypoparathyroidism","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/1225154856","title":"CIM-11"}]},{"topic":"Transient neonatal diabetes mellitus","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/1596856936","title":"CIM-11"}]}],"purpose":"The main objective of this study is to describe the natural history of imprinting disorders (IDs) according to their metabolic profile.","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":"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, Newborn (birth to 28 days)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D007231\"\n            }\n        },\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\": \"Patients (adults and children) affected with an ID regardless of the severity of the disease,  - with a confirmed diagnosis of ID (based on molecular diagnosis) - with a signed informed consent for adults or signed informed consent of parents\\\/guardians of minors\\\/protected adult.  \",\n    \"clusion_E\": \"There are no non-inclusion criteria.\"\n}","data_kind":"['Clinical 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