{"doc_desc":{"title":"Observatory of Patients with laminopathies and emerinopathies","idno":"FRESH-PEF5054-en","producers":[{"name":"Gis\u00e8le BONNE","affiliation":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF5054-en","IDno":{"metadata_no":[{"agency":"PEF","code":"5054"},{"agency":"FReSH","code":"FRESH-PEF5054"}]},"title":"Observatory of Patients with laminopathies and emerinopathies","alternate_title":"OPALE"},"study_authorization":{"agency":[]},"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 id"},{"title":"IdRef","uri":"074768018","role":"pi id"},{"title":"SIREN","uri":"267500452","role":"organisation 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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":"Primary disorders of muscles","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/833816211","title":"CIM-11"}]},{"topic":"Metabolic disorders","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/155258022","title":"CIM-11"}]},{"topic":"Cardiomyopathy","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/282225286","title":"CIM-11"}]},{"topic":"Biological determinants: Genetic predisposition","vocab":"health determinant"},{"topic":"Biological determinants","vocab":"health determinant"}],"purpose":"to precise the natural history of musculrr, cardiac, respiratory, orthopaedic and metabolic involovements of patients suffering from laminopathies and emerinopathies. to identify cardiovascular, neurologic and respiratory prognosis factors. to identify obstetrical and perioperative complications related to laminopathies and emerinopathies. to identify correlations between LMNA\/EMD gene mutations and the observated phenotypes. to have a repository ready for inclusion of patients in future therapeutic trials.","abstract":"","coll_dates":[{"start":"2013-01-01"}],"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\": \"all patient carrying a LMNA or a EMD gene mutation, including the paediatric population,  registered to Social Security Helathcare System.\",\n    \"clusion_E\": \"\"\n}","data_kind":"['Clinical data','Biological data','Socio-demographic data','Paraclinical data (non-biological) : Imaging','Paraclinical data (non-biological) : Other']","quality_statement":{"standards":[{"name":"","committee":"","governance":""}],"other_quality_statement":""}},"study_development":{"development_activity":[{"activity_type":"primary evaluation","activity_description":"Health event\/morbidity\r\nHealth event\/mortality"}]},"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, 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