{"doc_desc":{"title":"French Multicentric Cohort on Genetic, Epigenetic and Environmental Risk Factors of Autoimmune Diabetes and its Complications.","idno":"FRESH-PEF5075-en","producers":[{"name":"Pierre BOUGNERES","affiliation":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF5075-en","IDno":{"metadata_no":[{"agency":"PEF","code":"5075"},{"agency":"FReSH","code":"FRESH-PEF5075"}]},"title":"French Multicentric Cohort on Genetic, Epigenetic and Environmental Risk Factors of Autoimmune Diabetes and its Complications.","alternate_title":"ISIS-DIAB"},"study_authorization":{"agency":[]},"authoring_entity":[{"name":"Pierre;BOUGNERES","firstname":"Pierre","lastname":"BOUGNERES","type":"investigator","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/02vjkv261","role":"organisation id"},{"title":"SIREN","uri":"180036048","role":"organisation id"}],"email":"","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","PILabo":"INSERM - Institut National de la Sant\u00e9 et de la Recherche \/ U986 : Immunologie et g\u00e9n\u00e9tique du diab\u00e8te de type 1, g\u00e9n\u00e9tiquemultifactorielle en endocrinologie p\u00e9diatrique","isContact":false},{"name":"Alain-Jacques;VALLERON","firstname":"Alain-Jacques","lastname":"VALLERON","type":"investigator","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/02vjkv261","role":"organisation id"},{"title":"SIREN","uri":"180036048","role":"organisation id"}],"email":"alain-jacques.valleron@inserm.fr","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","PILabo":"INSERM - Institut National de la Sant\u00e9 et de la Recherche \/ U986 : Immunologie et g\u00e9n\u00e9tique du diab\u00e8te de type 1, g\u00e9n\u00e9tiquemultifactorielle en endocrinologie p\u00e9diatrique","isContact":true}],"oth_id":[{"name":""}],"production_statement":{"prod_place":"Epidemiology France Portal (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":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/02vjkv261"},{"title":"SIREN","uri":"180036048"}]},{"name":"NOVO NORDISK","extlink":[{"title":"SIREN","uri":"451356992"}]}]},"distribution_statement":{"contact":[{"name":"Alain-Jacques;VALLERON","lastname":"VALLERON","firstname":"Alain-Jacques","type":"contact","email":"alain-jacques.valleron@inserm.fr","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","contactPointLabo":"","extlink":[{"uri":"https:\/\/ror.org\/02vjkv261","role":"organisation id","title":"ROR"},{"uri":"180036048","role":"organisation id","title":"SIREN"}]}]},"study_info":{"keywords":[{"keyword":"Genetic environment"}],"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":"Socio-demographic and economic determinants: Employment","vocab":"health determinant"},{"topic":"Behavioral determinants","vocab":"health determinant"},{"topic":"Behavioral determinants: Eating habits","vocab":"health determinant"},{"topic":"Environmental determinants: Climate","vocab":"health determinant"},{"topic":"Environmental determinants","vocab":"health determinant"},{"topic":"Environmental determinants: Other","vocab":"health determinant"},{"topic":"Biological determinants: Genetic predisposition","vocab":"health determinant"},{"topic":"Socio-demographic and economic determinants","vocab":"health determinant"},{"topic":"Healthcare system determinants: Use of care","vocab":"health determinant"},{"topic":"Biological determinants","vocab":"health determinant"},{"topic":"Healthcare system determinants","vocab":"health determinant"}],"purpose":"To conduct gene-environment studies on a large scale, with a \"data driven\" methodology (GWAS for the genetic portion, questionnaires with no preconceived ideas and French environmental databases for the environmental portion), in order to identify risk factors of type 1 diabetes as well as its acute (severe hypoglycaemia, ketoacidosis) and chronic (retinopathy, nephropathy) complications. To conduct epigenetic studies by investigating methylation development (candidate genes or the entire genome) according to different phenotypic traits (glycaemic control, onset of complications, insulin dosage).To be the basis of immune modulation studies for all early diabetes, or for patients resistant to autoimmune attack, and to keep a significant reserve of functional beta cells for 1-5 years (European project DF-IL2, through collaboration with D. Klatzman, funded by FP7 clinical trial tender). ISIS provides the infrastructure to enable the recruitment of newly diagnosed diabetes cases (149 new cases of diabetes recruited in 2008, 136 in 2009, 143 in 2010 and 191 in 2011). To investigate the beginning of microangiopathic complications in a significant number of children and to study the medical, genetic, epigenetic and environmental determinants of these complications by an integrated and multi-factorial approach. Patients currently in the ISIS cohort have had diabetes for an average of 10.8 years and a mean HbA1c of 8.4%. Background retinopathy is expected in approximately 20% of those that have had diabetes over 10 years (at present: 1,581 cohort patients have had diabetes for more than 10 years, approximately 300 patients are expected to develop complications). We also wish to initiate a strategy for prospective primary prevention trials for retinopathy in 2012 in collaboration with Prof. P. Massin. To conduct studies on conventional treatment and improvements that can be initiated. Our main focus is to test therapeutic education procedures that can limit inequalities in treatment quality and promote \"minimally disruptive\" medical practice (May C, Montori VM, Fair FS: We need minimally disruptive medicine, BMJ 2009; 339: b2803) capable of minimising the therapeutic burden added to chronic disease, in contrast with the rampant intensification of treatment practised by some that we believe now threatens the quality of psychological development of a significant proportion of young children with diabetes. To conduct prospective studies on sudden death syndrome, \"dead in bed\" characteristics of adolescents with diabetes (O'Reilly M, O'Sullivan EP, Davenport C, Smith D: \u00ab Dead in bed \u00bb : a tragic complication of type 1 diabetes mellitus, Ir J Med Sci 2010, 179 (4): 585-7), risk factors for mortality and morbidity in severe ketoacidosis (special youth complications). Such studies do not exist in the literature: important case-based reasoning is necessary to answer these two questions. This explains the limited nature of the studies in the literature that relied on a small series of anecdotal and retrospective cases. To conduct humanities and social science studies in the field of psychological consequences of childhood diabetes, including the frequency of depressive syndromes (patients and parents) and to analyse health care access disparities (incorporating geographical, medical and sociological analyses). To broaden the scope of cohort-related work by screening case families for diabetes (there are about 5,200 brothers or sisters under 7 years of age related to diabetic children already included in ISIS).","abstract":"","coll_dates":[{"start":"2006-01-01"}],"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 (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\": \"French people with type 1 diabetes\",\n    \"clusion_E\": \"\"\n}","data_kind":"['Clinical data','Participant-reported health data','Biological data']","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, etc.)']"}},"coll_mode":["{\"concept\":{\"vocabURI\":\"Interview\",\"vocab\":\"CESSDA\"},\"value\":\"Interview with the participant (including clinical)\"}"],"research_instrument":"Access on specific project only","sources":[],"target_sample_size":"[10000-20000[ 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