{"doc_desc":{"title":"Observatoire des patients atteints de laminopathies et emerinopathies","idno":"FRESH-PEF5054-fr","producers":[{"name":"Gis\u00e8le BONNE","affiliation":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF5054-fr","IDno":{"metadata_no":[{"agency":"PEF","code":"5054"},{"agency":"FReSH","code":"FRESH-PEF5054"}]},"title":"Observatoire des patients atteints de laminopathies et emerinopathies","alternate_title":"OPALE"},"study_authorization":{"agency":[{"name":"CNIL"},{"name":"ANSM"},{"name":"CPP"},{"name":"CESREES"},{"name":"Autre"}]},"authoring_entity":[{"type":"investigator","name":"Karim;WAHBI","PILabo":"AP-HP \/ Centre de R\u00e9f\u00e9rence Pathologie Neuromusculaire Paris-Nord\/Est\/Ile de France - Service de Cardiologe Hopital Cochin","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","extlink":[{"title":"ORCID","uri":"0000-0001-7682-7387","role":"pi 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theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/4455c187-2f2f-4cd1-a4dd-449f59d73b39"},{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/c42fc6ec-b216-4a24-9e9d-f5e781c175a0"},{"title":"MeSH","uri":"http:\/\/id.nlm.nih.gov\/mesh\/D002309"}]},{"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":"Affections musculaires primitives","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/833816211","title":"CIM-11"}]},{"topic":"Troubles m\u00e9taboliques","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/155258022","title":"CIM-11"}]},{"topic":"Cardiomyopathie","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/282225286","title":"CIM-11"}]},{"topic":"D\u00e9terminants biologiques : Pr\u00e9dispositions g\u00e9n\u00e9tiques","vocab":"health determinant"},{"topic":"D\u00e9terminants biologiques","vocab":"health determinant"}],"purpose":"Pr\u00e9ciser l\u2019histoire naturelle des atteintes musculaires, cardiaque, respiratoire, orthop\u00e9dique et m\u00e9taboliques des patients atteints de laminopathies et \u00e9merinopathies Identifier des facteurs pronostiques cardiovasculaires, neurologiques, respiratoires et m\u00e9taboliques, Pr\u00e9ciser le risque de complications obst\u00e9tricales et op\u00e9ratoires associ\u00e9es \u00e0 la pathologie, Pr\u00e9ciser les corr\u00e9lations \u00e9ventuelles entre les mutations du g\u00e8ne LMNA ou du g\u00e8ne EMD et le ph\u00e9notype observ\u00e9, Disposer d\u2019un registre pr\u00eat pour faciliter l\u2019inclusion des patients dans les futurs essais cliniques.","abstract":"","coll_dates":[{"start":"2013-01-01"}],"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           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