{"doc_desc":{"title":"Cohorte sur les facteurs de risque g\u00e9n\u00e9tiques, \u00e9pig\u00e9n\u00e9tiques et environnementaux du diab\u00e8te auto-immun et de ses complications","idno":"FRESH-PEF5075-fr","producers":[{"name":"Pierre BOUGNERES","affiliation":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF5075-fr","IDno":{"metadata_no":[{"agency":"PEF","code":"5075"},{"agency":"FReSH","code":"FRESH-PEF5075"}]},"title":"Cohorte sur les facteurs de risque g\u00e9n\u00e9tiques, \u00e9pig\u00e9n\u00e9tiques et environnementaux du diab\u00e8te auto-immun et de ses complications","alternate_title":"ISIS-DIAB"},"study_authorization":{"agency":[{"name":"CNIL"},{"name":"CPP"},{"name":"CESREES"}]},"authoring_entity":[{"type":"investigator","name":"Pierre;BOUGNERES","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","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","extlink":[{"title":"ORCID","uri":"0000-0003-0017-4572","role":"pi id"},{"title":"IdRef","uri":"029291623","role":"pi id"},{"title":"SIREN","uri":"180036048","role":"organisation id"},{"title":"","uri":"","role":"labo id"}],"email":"","isContact":"Non"},{"type":"investigator","name":"Alain-Jacques;VALLERON","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","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","extlink":[{"title":"ORCID","uri":"0000-0002-5678-9923","role":"pi id"},{"title":"IdRef","uri":"264791258","role":"pi id"},{"title":"SIREN","uri":"180036048","role":"organisation id"},{"title":"","uri":"","role":"labo id"}],"email":"alain-jacques.valleron@inserm.fr","isContact":"Oui"}],"oth_id":[{"name":""}],"production_statement":{"prod_place":"Portail Epid\u00e9miologie France (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","email":"alain-jacques.valleron@inserm.fr","type":"contact","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":"g\u00e9n\u00e9tique environnement"}],"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":"D\u00e9terminants socio-d\u00e9mographiques et \u00e9conomiques : Emploi","vocab":"health determinant"},{"topic":"D\u00e9terminants comportementaux","vocab":"health determinant"},{"topic":"D\u00e9terminants comportementaux : Alimentation","vocab":"health determinant"},{"topic":"D\u00e9terminants environnementaux : Climat","vocab":"health determinant"},{"topic":"D\u00e9terminants environnementaux","vocab":"health determinant"},{"topic":"D\u00e9terminants environnementaux : Autres","vocab":"health determinant"},{"topic":"D\u00e9terminants biologiques : Pr\u00e9dispositions g\u00e9n\u00e9tiques","vocab":"health determinant"},{"topic":"D\u00e9terminants socio-d\u00e9mographiques et \u00e9conomiques","vocab":"health determinant"},{"topic":"D\u00e9terminants li\u00e9s au syst\u00e8me de sant\u00e9 : Consommation des soins","vocab":"health determinant"},{"topic":"D\u00e9terminants biologiques","vocab":"health determinant"},{"topic":"D\u00e9terminants li\u00e9s au syst\u00e8me de sant\u00e9","vocab":"health determinant"}],"purpose":"Conduire des \u00e9tudes g\u00e8nes-environnement \u00e0 grande \u00e9chelle, avec une m\u00e9thodologie \u00ab data driven \u00bb (GWAS pour la partie g\u00e9n\u00e9tique, questionnaires sans id\u00e9es pr\u00e9con\u00e7ues et bases de donn\u00e9es environnementales fran\u00e7aises pour la partie environnementale), dans le but d\u2019identifier des facteurs de risque du diab\u00e8te de type 1 mais \u00e9galement de ses complications aigu\u00ebs (hypoglyc\u00e9mies s\u00e9v\u00e8res, acidoc\u00e9toses) et chroniques (r\u00e9tinopathie, n\u00e9phropathie ). Conduire des \u00e9tudes \u00e9pig\u00e9n\u00e9tiques, en \u00e9tudiant notamment l\u2019\u00e9volution de la m\u00e9thylation (g\u00e8nes candidat ou g\u00e9nome entier) en fonction de diff\u00e9rents traits ph\u00e9notypiques (\u00e9quilibre glyc\u00e9mique, apparition des complications, doses d\u2019insuline ). Etre la base d\u2019\u00e9tudes d\u2019immuno-modulation au tout d\u00e9but du diab\u00e8te ou chez des patients r\u00e9silients \u00e0 l\u2019attaque auto-immune et qui conservent pendant 1-5 ans une r\u00e9serve cons\u00e9quente de cellules \u00df fonctionnelles (projet europ\u00e9en DF-IL2, dans le cadre d\u2019une collaboration avec D.Klatzman, financ\u00e9 par l\u2019appel d\u2019offres d\u2019essais cliniques de FP7). ISIS fournit l\u2019infrastructure qui permettra le recrutement de cas de diab\u00e8te r\u00e9cemment diagnostiqu\u00e9s (149 nouveaux cas de diab\u00e8te recrut\u00e9s en 2008, 136 en 2009, 143 en 2010 et 191 en 2011). Atteindre le d\u00e9but des complications de micro-angiopathie chez un nombre cons\u00e9quent d\u2019enfants et pouvoir \u00e9tudier le d\u00e9terminisme m\u00e9dical, g\u00e9n\u00e9tique, \u00e9pig\u00e9n\u00e9tique, environnemental de ces complications de fa\u00e7on int\u00e9gr\u00e9e et multifactorielle. Les patients ayant actuellement dans la cohorte ISIS une dur\u00e9e moyenne de diab\u00e8te de 10.8 ans, et une HbA1c moyenne \u00e0 8.4%, on peut s\u2019attendre \u00e0 la d\u00e9tection d\u2019une r\u00e9tinopathie background chez environ 20% de ceux qui ont plus de 10 ans de diab\u00e8te (\u00e0 l\u2019heure actuelle : 1581 patients de la cohorte ont plus de 10 ans de diab\u00e8te, environ 300 patients devraient d\u00e9velopper des complications). Nous souhaitons \u00e9galement initier en 2012 une strat\u00e9gie d\u2019essais prospectifs de pr\u00e9vention primaire de la r\u00e9tinopathie en collaborant avec le Pr P.Massin. Conduire des \u00e9tudes sur le traitement classique et les am\u00e9liorations qu\u2019on peut lui apporter : notre focus plus particulier est de tester des proc\u00e9dures d\u2019\u00e9ducation th\u00e9rapeutique capables de limiter les in\u00e9galit\u00e9s de qualit\u00e9 de soins et de promouvoir une pratique m\u00e9dicale \u00ab minimally disruptive \u00bb (May C, Montori VM, Fair FS : We need minimally disruptive medicine, BMJ 2009 ; 339 : b2803) capable de minimiser le fardeau th\u00e9rapeutique surajout\u00e9 \u00e0 la maladie chronique, contrastant avec l\u2019intensification effr\u00e9n\u00e9e du traitement pratiqu\u00e9e par certains et qui selon nous menace aujourd\u2019hui la qualit\u00e9 du d\u00e9veloppement psychologique d\u2019une fraction notable de jeunes enfants diab\u00e9tiques. Conduire des \u00e9tudes prospectives sur le syndrome de mort subite \u00ab dead in bed \u00bb caract\u00e9ristique des adolescents diab\u00e9tiques (O\u2019Reilly M, O\u2019Sullivan 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), les facteurs de risque de mortalit\u00e9-morbidit\u00e9 lors des acidoc\u00e9toses graves (complications particuli\u00e8res aux adolescents). De telles \u00e9tudes n\u2019existent pas dans la litt\u00e9rature : il faut pour ces deux questions une casuistique importante, ce qui explique les limites des \u00e9tudes de la litt\u00e9rature appuy\u00e9es sur des petites s\u00e9ries de cas anecdotiques et r\u00e9trospectifs. Conduire des \u00e9tudes de sciences humaines et sociales dans le domaine des cons\u00e9quences psychologiques du diab\u00e8te de l\u2019enfant, notamment la fr\u00e9quence des syndromes d\u00e9pressifs (patient et parents) et l\u2019analyse des disparit\u00e9s d\u2019acc\u00e8s aux soins (int\u00e9grant analyses g\u00e9ographiques, m\u00e9dicales et sociologiques). Etendre le champ de travail de la cohorte au d\u00e9pistage du diab\u00e8te dans les familles de cas (il y a environ 5200 fr\u00e8res ou soeurs \u00e2g\u00e9s de moins de 7 ans d\u2019enfants diab\u00e9tiques d\u00e9j\u00e0 inclus dans ISIS).","abstract":"","coll_dates":[{"start":"2006-01-01"}],"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            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(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 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