[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100559910":3},{"organization":4,"outcomesModule":7,"designInfo":103,"detailedDescription":111,"studyPopulation":108,"armGroups":112,"interventions":123,"overallOfficials":128,"centralContacts":132,"locations":138,"responsibleParty":486,"collaborators":488,"id":507,"slug":108,"hasResults":508,"nctId":509,"briefTitle":510,"officialTitle":510,"acronym":511,"eligibilityCriteria":512,"healthyVolunteers":508,"sex":513,"minAge":514,"maxAge":108,"enrollmentInfo":515,"targetDuration":108,"studyType":518,"phases":519,"briefSummary":521,"conditions":522,"keywords":524,"overallStatus":141,"whyStopped":108,"lastUpdateSubmitDate":528,"lastUpdatePostDateStruct":529,"startDateStruct":532,"completionDateStruct":534,"leadSponsor":536,"locationsCount":537},{"fullName":5,"class":6},"Institut National de la Santé Et de la Recherche Médicale, France","OTHER_GOV",{"primaryOutcomes":8,"secondaryOutcomes":13,"otherOutcomes":92},[9],{"measure":10,"description":11,"timeFrame":12},"Number of patients with one or several genetic alterations likely causal of diabetes","Number of patients in each group with one or several genetic alterations likely causal of diabetes","At 6 months in control group and 12 months in interventional group",[14,18,21,24,27,30,33,36,39,42,45,48,51,54,57,60,62,64,66,68,70,72,74,76,79,82,84,88],{"measure":15,"description":16,"timeFrame":17},"Number of patients with an impact on treatment modification","Number of patients in each group with an impact on treatment modification including discontinuation and reason of this modification","5 years",{"measure":19,"description":20,"timeFrame":12},"Number of genetic alterations likely causal of diabetes","Number of genetic alterations likely causal of diabetes (classified as class 4 or 5 variants)",{"measure":22,"description":23,"timeFrame":12},"Feasibility of the whole genome sequencing (WGS) coupled with multidisciplinary conciliation meeting (MCM) on diagnosis of atypical forms of diabetes: time to access to the genetic data","time between blood sampling and availability of genetic data by GLUCOGEN laboratories",{"measure":25,"description":26,"timeFrame":12},"Feasibility of the WGS coupled with MCM on diagnosis of atypical forms of diabetes: time between blood sampling and MCM","time between blood sampling and MCM",{"measure":28,"description":29,"timeFrame":12},"Feasibility of the WGS coupled with MCM on diagnosis of atypical forms of diabetes: time between blood sampling and access to WGS report","time between blood sampling and access to WGS report produced by GLUCOGEN laboratory",{"measure":31,"description":32,"timeFrame":17},"Feasibility of the WGS coupled with MCM on diagnosis of atypical forms of diabetes: time between blood sampling and date of the WGS result visit","time between blood sampling and date of the WGS result visit",{"measure":34,"description":35,"timeFrame":12},"Genotype-Insulin secretion phenotype association","Genotype-phenotype associations corresponding to insulin secretion",{"measure":37,"description":38,"timeFrame":12},"Genotype-Insulin sensitivity phenotype association","Genotype-phenotype associations corresponding to insulin sensitivity\n\n• Body composition",{"measure":40,"description":41,"timeFrame":12},"Genotype-body composition phenotype association","Genotype-phenotype associations corresponding to body composition",{"measure":43,"description":44,"timeFrame":17},"Glycemic control without insulin treatment","Percentage of patients with glycated hemoglobin (HbA1c) target below 7% without insulin treatment at 2, 3, 4 and 5 years",{"measure":46,"description":47,"timeFrame":17},"Glycemic control without severe hypoglycemia","Percentage of patients with glycated hemoglobin (HbA1c) target below 7% without severe hypoglycemia in the last 6 months and with a change in body mass index \\\u003C 1 kg\u002Fm² in the last 6 months at 2, 3, 4 and 5 years",{"measure":49,"description":50,"timeFrame":17},"Number of long-term micro and macro vascular complications associated with diabetes and time to occurrence of the first complication","Number of long-term micro and macro vascular complications associated with diabetes and time to occurrence of the first complication:\n\n* Retinopathy\n* Nephropathy\n* Neuropathy\n* Cardiovascular disease\n* Liver disease",{"measure":52,"description":53,"timeFrame":17},"Patient-Reported Outcomes (PROs), evaluated with SF36 questionnaire","SF36 questionnaire at baseline, every 6 months during the first 2 years, then every year until 5 years.",{"measure":55,"description":56,"timeFrame":17},"Patient-Reported Outcomes (PROs), evaluated with Euroquol Dimension (EQ-5D-5L) questionnaire","EQ-5D-5L questionnaire at baseline, every 6 months during the first 2 years, then every year until 5 years.\n\n• ADDQOL questionnaire",{"measure":58,"description":59,"timeFrame":17},"Patient-Reported Outcomes (PROs), evaluated with Audit of Diabetes Dependent Quality of Life (ADDQOL) questionnaire","ADDQOL questionnaire at baseline, every 6 months during the first 2 years, then every year until 5 years.",{"measure":61,"description":61,"timeFrame":12},"Number of participants agreeing to have access to secondary findings (SF)",{"measure":63,"description":63,"timeFrame":12},"Number and type of SFs (class 4 or 5 variant(s)) identified in participants that specifically consent to have access to SF",{"measure":65,"description":65,"timeFrame":12},"Percentage of SFs in the studied population",{"measure":67,"description":67,"timeFrame":17},"Number and type of medical consequences following identification of SFs",{"measure":69,"description":69,"timeFrame":17},"Direct costs associated with current diagnosis practices (ISApanel)",{"measure":71,"description":71,"timeFrame":17},"Direct costs associated with WGS coupled with MCM",{"measure":73,"description":73,"timeFrame":17},"Incremental cost-effectiveness ratio of WGS coupled with MCM compared to current diagnosis practices (ISApanel)",{"measure":75,"description":75,"timeFrame":17},"Incremental cost-utility ratio of WGS coupled with MCM compared to current diagnosis practices (ISApanel)",{"measure":77,"description":78,"timeFrame":17},"Cost-benefit of WGS coupled with MCM compared to current diagnosis practices","Cost-benefit of WGS coupled with MCM compared to current diagnosis practices (ISApanel) in terms of cost of wandering diagnosis and care procedure avoided",{"measure":80,"description":81,"timeFrame":12},"Psychosocial issues related to genetic testing for atypical diabetes","Qualitative data related to patients' expectations regarding genetic testing related to atypical diabetes and needs to receive SF information.",{"measure":80,"description":83,"timeFrame":17},"* Qualitative data (discourse - semi-structured individual interviews) related to patients experience following genetic testing results for atypical diabetes\n* Qualitative data (discourse - semi-structured individual interviews) related to patients' experience of the GLUCOGEN trial",{"measure":85,"description":86,"timeFrame":87},"Psychosocial issues related to patients' experience of the GLUCOGEN trial","Quantitative data (questionnaire)","18 months",{"measure":89,"description":90,"timeFrame":91},"Psychosocial issues related to professional's experience of the GLUCOGEN research protocol","Qualitative data (observation), including information regarding doctor-patient relationship and decision-making processes.","12 months",[93,95,97,99,101],{"measure":94,"description":94,"timeFrame":12},"Number and characteristics of new genomic variations responsible for diabetes development",{"measure":96,"description":96,"timeFrame":12},"Number and characteristics of genomic variations and their association with defined phenotypes including integrated diagnostic biomarkers",{"measure":98,"description":98,"timeFrame":12},"Number and characteristics of genomic variations known as drug targets",{"measure":100,"description":100,"timeFrame":12},"Number and characteristics of genomic variations of metabolism, transport or drug targets of diabetes and their consequences on treatment response",{"measure":102,"description":102,"timeFrame":12},"Number and characteristics of molecular targets in atypical diabetes",{"allocation":104,"interventionModel":105,"interventionModelDescription":106,"primaryPurpose":107,"observationalModel":108,"timePerspective":108,"maskingInfo":109},"RANDOMIZED","PARALLEL","We plan to randomize one patient in the control group for two in the intervention group.","DIAGNOSTIC",null,{"masking":110,"maskingDescription":108,"whoMasked":108},"NONE","The prevalence of diabetes is 7.4% in France among people aged 20 to 79 years in 2015. We must also consider \\"pre-diabetes\\" (subjects with glucose intolerance), whose prevalence is equivalent to that of diabetes (2012 estimate). The incidence of diabetes is exploding both for type 2 diabetes, which represents 85% of diabetes, and for type 1 diabetes, which represents 10% of cases and starts one out of two times before the age of 20. Diabetes typing is essential to guide therapeutic choices, particularly the use of insulin. This typing is based on the pathophysiology of the disease, distinguishing insulinopenia from autoimmune causes in type 1 diabetes, monogenic diabetes, secondary or atypical diabetes and type 2 diabetes, where insulinopenia and insulin resistance coexist. Thus, while a formal biological diagnosis is possible for some forms of atypical diabetes and for type 1 diabetes, no biological parameter is currently available for type 2 diabetes, which remains a diagnosis of exclusion. As a result, diabetes represents a source of diagnostic and therapeutic erraticism, amplified by the clinical heterogeneity of type 2 diabetes, which is obvious and underestimated, and by a clinical phenotyping of patients that is often defective. The economic consequences are important because the health costs are very different depending on whether or not patients are treated with insulin. Type 1 and type 2 diabetes are examples of chronic, non-transmissible, multigenic, multifactorial diseases. However, less than 10% of the heritability of type 2 diabetes is currently explained by the associated genetic variants. And although genetic tests exist to diagnose certain monogenic diabetes, this diagnosis is made in less than 20% of cases, mainly in the presence of an atypical clinical presentation of diabetes. Moreover, there is no reason to rule out the hypothesis of paucigenic forms, at the interface of monogenic diabetes and multigenic forms as usually envisaged, as has been observed in chronic pancreatitis, which is also accompanied by diabetes.\n\nThe study will be conducted according to a randomized trial design comparing two diagnostic strategies defined as follows:\n\n* Control strategy: in silico analysis of a panel of validated genes (ISApanel - Diabetome 1). Patients recruited along the control procedure will stay in their group using current genetic diagnosis practices and standard of care that may differ from one center to another.\n* Intervention strategy: whole genome sequencing coupled with multidisciplinary conciliation meeting.\n\nWe plan to randomize one patient in the control group for two in the intervention group.\n\nThe main objective of the study is to assess the contribution of whole genome sequencing (WGS) coupled with a multidisciplinary conciliation meeting (MCM) on diagnosis of atypical forms of diabetes compared to an in-silico analysis of a panel of validated genes (ISApanel), corresponding to current practice.\n\nThe target population is 1020 adults with atypical diabetes for whom it is possible to obtain a blood sample.",[113,117],{"label":114,"type":115,"description":116,"interventionNames":108},"control procedure","NO_INTERVENTION","In-silico analysis of a panel of validated genes (ISApanel). Patients recruited along control procedure will stay in their arm using current genetic diagnosis practices and standard of care that may differ from one center to another",{"label":118,"type":119,"description":120,"interventionNames":121},"intervention procedure","EXPERIMENTAL","WGS coupled with MCM",[122],"Diagnostic Test: WGS coupled with MCM",[124],{"type":125,"name":120,"description":126,"armGroupLabels":127,"otherNames":108},"DIAGNOSTIC_TEST","Whole genome will be screened and analysis will focus on pathogenic and likely pathogenic variants. The list of variants of interest will be recorded until examination and discussion during the MCM. MCM will edit a final synthesis concerning the pathogenicity of identified variants.",[118],[129],{"name":130,"affiliation":5,"role":131},"Jean-François GAUTIER","PRINCIPAL_INVESTIGATOR",[133],{"name":134,"role":135,"phone":136,"phoneExt":108,"email":137},"Jean-François Gautier","CONTACT","+33 01 49 95 90 20","jean-francois.gautier@aphp.fr",[139,157,170,184,198,212,226,240,254,268,282,293,307,321,334,348,362,376,387,396,407,418,430,444,458,472],{"facility":140,"status":141,"city":142,"state":108,"zip":108,"country":143,"countryCode":144,"cosmosGeoPoint":145,"geoPoint":150,"contacts":151},"University Hospital","RECRUITING","Amiens","France","FR",{"type":146,"coordinates":147},"Point",[148,149],2.3,49.9,{"lat":149,"lon":148},[152,156],{"name":153,"role":135,"phone":154,"phoneExt":108,"email":155},"Abdallah AL SALAMEH","333 22 45 58 89","Al-Salameh.Abdallah@chu-amiens.fr",{"name":153,"role":131,"phone":108,"phoneExt":108,"email":108},{"facility":140,"status":141,"city":158,"state":108,"zip":108,"country":143,"countryCode":144,"cosmosGeoPoint":159,"geoPoint":163,"contacts":164},"Angers",{"type":146,"coordinates":160},[161,162],-0.55202,47.47156,{"lat":162,"lon":161},[165,169],{"name":166,"role":135,"phone":167,"phoneExt":108,"email":168},"Ingrid ALLIX","332 41 35 42 40","ingrid.allix@chu-angers.fr",{"name":166,"role":131,"phone":108,"phoneExt":108,"email":108},{"facility":171,"status":141,"city":172,"state":108,"zip":108,"country":143,"countryCode":144,"cosmosGeoPoint":173,"geoPoint":177,"contacts":178},"University Hospital Jean Minjoz","Besançon",{"type":146,"coordinates":174},[175,176],6.01815,47.24878,{"lat":176,"lon":175},[179,183],{"name":180,"role":135,"phone":181,"phoneExt":108,"email":182},"Sophie BOROT","333 81 66 87 88","sophie.borot@univ-fcomte.fr",{"name":180,"role":131,"phone":108,"phoneExt":108,"email":108},{"facility":185,"status":141,"city":186,"state":108,"zip":108,"country":143,"countryCode":144,"cosmosGeoPoint":187,"geoPoint":191,"contacts":192},"University Hospital Haut Lévêque","Bordeaux",{"type":146,"coordinates":188},[189,190],-0.58046,44.84124,{"lat":190,"lon":189},[193,197],{"name":194,"role":135,"phone":195,"phoneExt":108,"email":196},"Vincent RIGALLEAU","335 57 65 69 14","vincent.rigalleau@chu-bordeaux.fr",{"name":194,"role":131,"phone":108,"phoneExt":108,"email":108},{"facility":199,"status":141,"city":200,"state":108,"zip":108,"country":143,"countryCode":144,"cosmosGeoPoint":201,"geoPoint":205,"contacts":206},"University Hospital Cavale Blanche","Brest",{"type":146,"coordinates":202},[203,204],-4.48628,48.39029,{"lat":204,"lon":203},[207,211],{"name":208,"role":135,"phone":209,"phoneExt":108,"email":210},"Philippe THUILLIER","332 98 22 33 33","philippe.thuillier@chu-brest.fr",{"name":208,"role":131,"phone":108,"phoneExt":108,"email":108},{"facility":213,"status":141,"city":214,"state":108,"zip":108,"country":143,"countryCode":144,"cosmosGeoPoint":215,"geoPoint":219,"contacts":220},"Centre Hospitalier Sud Francilien","Corbeil-Essonnes",{"type":146,"coordinates":216},[217,218],2.48757,48.60603,{"lat":218,"lon":217},[221,225],{"name":222,"role":135,"phone":223,"phoneExt":108,"email":224},"Coralie AMADOU","331 61 69 34 27","coralie.amadou@gmail.com",{"name":222,"role":131,"phone":108,"phoneExt":108,"email":108},{"facility":227,"status":141,"city":228,"state":108,"zip":108,"country":143,"countryCode":144,"cosmosGeoPoint":229,"geoPoint":233,"contacts":234},"University Hospital Bocage","Dijon",{"type":146,"coordinates":230},[231,232],5.01391,47.31344,{"lat":232,"lon":231},[235,239],{"name":236,"role":135,"phone":237,"phoneExt":108,"email":238},"Bruno VERGES","333 80 29 34 53","bruno.verges@chu-dijon.fr",{"name":236,"role":131,"phone":108,"phoneExt":108,"email":108},{"facility":241,"status":141,"city":242,"state":108,"zip":108,"country":143,"countryCode":144,"cosmosGeoPoint":243,"geoPoint":247,"contacts":248},"University Hospital Michallon","Grenoble",{"type":146,"coordinates":244},[245,246],5.71479,45.17869,{"lat":246,"lon":245},[249,253],{"name":250,"role":135,"phone":251,"phoneExt":108,"email":252},"Sandrine LABLANCHE","334 76 76 55 09","slablanche@chu-grenoble.fr",{"name":250,"role":131,"phone":108,"phoneExt":108,"email":108},{"facility":255,"status":256,"city":257,"state":108,"zip":108,"country":143,"countryCode":144,"cosmosGeoPoint":258,"geoPoint":262,"contacts":263},"Assistance Publique Hôpitaux de Paris, Bicêtre Hospital","NOT_YET_RECRUITING","Le Kremlin-Bicêtre",{"type":146,"coordinates":259},[260,261],2.36073,48.81471,{"lat":261,"lon":260},[264,267],{"name":265,"role":135,"phone":108,"phoneExt":108,"email":266},"Jacques YOUNG","jacques.young@aphp.fr",{"name":265,"role":131,"phone":108,"phoneExt":108,"email":108},{"facility":269,"status":141,"city":270,"state":108,"zip":108,"country":143,"countryCode":144,"cosmosGeoPoint":271,"geoPoint":275,"contacts":276},"University Hospital Louis Pradel","Lyon",{"type":146,"coordinates":272},[273,274],4.84789,45.74906,{"lat":274,"lon":273},[277,281],{"name":278,"role":135,"phone":279,"phoneExt":108,"email":280},"Sybil CHARRIERE","330 27 85 77 86","sybil.charriere@chu-lyon.fr",{"name":278,"role":131,"phone":108,"phoneExt":108,"email":108},{"facility":283,"status":141,"city":270,"state":108,"zip":108,"country":143,"countryCode":144,"cosmosGeoPoint":284,"geoPoint":286,"contacts":287},"University Hospital Sud",{"type":146,"coordinates":285},[273,274],{"lat":274,"lon":273},[288,292],{"name":289,"role":135,"phone":290,"phoneExt":108,"email":291},"Emmanuel DISSE","334 78 86 19 40","emmanuel.disse@chu-lyon.fr",{"name":289,"role":131,"phone":108,"phoneExt":108,"email":108},{"facility":294,"status":141,"city":295,"state":108,"zip":108,"country":143,"countryCode":144,"cosmosGeoPoint":296,"geoPoint":300,"contacts":301},"University Hospital Conception","Marseille",{"type":146,"coordinates":297},[298,299],5.38107,43.29695,{"lat":299,"lon":298},[302,306],{"name":303,"role":135,"phone":304,"phoneExt":108,"email":305},"Patrice DARMON","334 91 38 41 22","patrice.darmon@ap-hm.fr",{"name":303,"role":131,"phone":108,"phoneExt":108,"email":108},{"facility":308,"status":141,"city":309,"state":108,"zip":108,"country":143,"countryCode":144,"cosmosGeoPoint":310,"geoPoint":314,"contacts":315},"University Hospital Lapeyronie","Montpellier",{"type":146,"coordinates":311},[312,313],3.87635,43.61093,{"lat":313,"lon":312},[316,320],{"name":317,"role":135,"phone":318,"phoneExt":108,"email":319},"Ariane SULTAN","334 67 33 84 02","a-sultan@chu-montpellier.fr",{"name":317,"role":131,"phone":108,"phoneExt":108,"email":108},{"facility":140,"status":256,"city":322,"state":108,"zip":108,"country":143,"countryCode":144,"cosmosGeoPoint":323,"geoPoint":327,"contacts":328},"Nancy",{"type":146,"coordinates":324},[325,326],6.18496,48.68439,{"lat":326,"lon":325},[329,333],{"name":330,"role":135,"phone":331,"phoneExt":108,"email":332},"Bruno GUERCI","333 83 15 55 63","b.guerci@chru-nancy.fr",{"name":330,"role":131,"phone":108,"phoneExt":108,"email":108},{"facility":335,"status":141,"city":336,"state":108,"zip":108,"country":143,"countryCode":144,"cosmosGeoPoint":337,"geoPoint":341,"contacts":342},"University Hospital Laennec","Nantes",{"type":146,"coordinates":338},[339,340],-1.55336,47.21725,{"lat":340,"lon":339},[343,347],{"name":344,"role":135,"phone":345,"phoneExt":108,"email":346},"Samy HADJADJ","332 53 48 27 29","samy.hadjadj@univ-nantes.fr",{"name":344,"role":131,"phone":108,"phoneExt":108,"email":108},{"facility":349,"status":256,"city":350,"state":108,"zip":108,"country":143,"countryCode":144,"cosmosGeoPoint":351,"geoPoint":355,"contacts":356},"University Hospital L'Archet","Nice",{"type":146,"coordinates":352},[353,354],7.26608,43.70313,{"lat":354,"lon":353},[357,361],{"name":358,"role":135,"phone":359,"phoneExt":108,"email":360},"Nicolas CHEVALIER","334 92 03 55 19","chevalier.n@chu-nice.fr",{"name":358,"role":131,"phone":108,"phoneExt":108,"email":108},{"facility":363,"status":141,"city":364,"state":108,"zip":108,"country":143,"countryCode":144,"cosmosGeoPoint":365,"geoPoint":369,"contacts":370},"Assistance Publique Hôpitaux de Paris, Bichat - Claude Bernard Hospital","Paris",{"type":146,"coordinates":366},[367,368],2.3488,48.85341,{"lat":368,"lon":367},[371,375],{"name":372,"role":135,"phone":373,"phoneExt":108,"email":374},"Louis POTIER","331 40 25 88 80","louis.potier@aphp.fr",{"name":372,"role":131,"phone":108,"phoneExt":108,"email":108},{"facility":377,"status":141,"city":364,"state":108,"zip":108,"country":143,"countryCode":144,"cosmosGeoPoint":378,"geoPoint":380,"contacts":381},"Assistance Publique Hôpitaux de Paris, Cochin Hospital",{"type":146,"coordinates":379},[367,368],{"lat":368,"lon":367},[382,386],{"name":383,"role":135,"phone":384,"phoneExt":108,"email":385},"Danièle DUBOIS-LAFORGUE","331 58 41 33 71","daniele.dubois@aphp.fr",{"name":383,"role":131,"phone":108,"phoneExt":108,"email":108},{"facility":388,"status":141,"city":364,"state":108,"zip":108,"country":143,"countryCode":144,"cosmosGeoPoint":389,"geoPoint":391,"contacts":392},"Assistance Publique Hôpitaux de Paris, Lariboisière Hospital",{"type":146,"coordinates":390},[367,368],{"lat":368,"lon":367},[393,395],{"name":130,"role":135,"phone":394,"phoneExt":108,"email":137},"331 49 95 90 20",{"name":130,"role":131,"phone":108,"phoneExt":108,"email":108},{"facility":397,"status":141,"city":364,"state":108,"zip":108,"country":143,"countryCode":144,"cosmosGeoPoint":398,"geoPoint":400,"contacts":401},"Assistance Publique Hôpitaux de Paris, Saint Antoine Hospital",{"type":146,"coordinates":399},[367,368],{"lat":368,"lon":367},[402,406],{"name":403,"role":135,"phone":404,"phoneExt":108,"email":405},"Camille VATIER","331 49 28 24 07","camille.vatier@aphp.fr",{"name":403,"role":131,"phone":108,"phoneExt":108,"email":108},{"facility":408,"status":141,"city":364,"state":108,"zip":108,"country":143,"countryCode":144,"cosmosGeoPoint":409,"geoPoint":411,"contacts":412},"Assistance Publique Hôpitaux de Paris- La Pitié Salpêtrière Hospital",{"type":146,"coordinates":410},[367,368],{"lat":368,"lon":367},[413,417],{"name":414,"role":135,"phone":415,"phoneExt":108,"email":416},"Cécile CIANGURA","331 42 17 80 51","cecile.ciangura@aphp.fr",{"name":414,"role":131,"phone":108,"phoneExt":108,"email":108},{"facility":140,"status":256,"city":419,"state":108,"zip":108,"country":143,"countryCode":144,"cosmosGeoPoint":420,"geoPoint":424,"contacts":425},"Poitiers",{"type":146,"coordinates":421},[422,423],0.34348,46.58261,{"lat":423,"lon":422},[426,429],{"name":427,"role":135,"phone":108,"phoneExt":108,"email":428},"Héléna MOSBAH","helena.mosbah@chu-poitiers.fr",{"name":427,"role":131,"phone":108,"phoneExt":108,"email":108},{"facility":431,"status":141,"city":432,"state":108,"zip":108,"country":143,"countryCode":144,"cosmosGeoPoint":433,"geoPoint":437,"contacts":438},"Rennes University Hospital","Rennes",{"type":146,"coordinates":434},[435,436],-1.67431,48.11109,{"lat":436,"lon":435},[439,443],{"name":440,"role":135,"phone":441,"phoneExt":108,"email":442},"Agathe GUENEGO","332 99 26 71 42","agathe.guenego@chu-rennes.fr",{"name":440,"role":131,"phone":108,"phoneExt":108,"email":108},{"facility":445,"status":141,"city":446,"state":108,"zip":108,"country":143,"countryCode":144,"cosmosGeoPoint":447,"geoPoint":451,"contacts":452},"University Hospital Bois Guillaume","Rouen",{"type":146,"coordinates":448},[449,450],1.09932,49.44313,{"lat":450,"lon":449},[453,457],{"name":454,"role":135,"phone":455,"phoneExt":108,"email":456},"Gaetan PREVOST","332 32 88 92 55","gaetan.prevost@chu-rouen.fr",{"name":454,"role":131,"phone":108,"phoneExt":108,"email":108},{"facility":459,"status":141,"city":460,"state":108,"zip":108,"country":143,"countryCode":144,"cosmosGeoPoint":461,"geoPoint":465,"contacts":466},"Strasbourg University Hospital","Strasbourg",{"type":146,"coordinates":462},[463,464],7.74553,48.58392,{"lat":464,"lon":463},[467,471],{"name":468,"role":135,"phone":469,"phoneExt":108,"email":470},"Laurent MEYER","+33 03 88 12 77 21","laurent.meyer@chru-strasbourg.fr",{"name":468,"role":131,"phone":108,"phoneExt":108,"email":108},{"facility":473,"status":141,"city":474,"state":108,"zip":108,"country":143,"countryCode":144,"cosmosGeoPoint":475,"geoPoint":479,"contacts":480},"University Hospital Rangueil","Toulouse",{"type":146,"coordinates":476},[477,478],1.44367,43.60426,{"lat":478,"lon":477},[481,485],{"name":482,"role":135,"phone":483,"phoneExt":108,"email":484},"Pierre GOURDY","335 61 32 33 61","pierre.gourdy@inserm.fr",{"name":482,"role":131,"phone":108,"phoneExt":108,"email":108},{"type":487,"investigatorFullName":108,"investigatorTitle":108,"investigatorAffiliation":108,"oldNameTitle":108,"oldOrganization":108},"SPONSOR",[489,491,493,495,497,499,501,503,505],{"name":490,"class":6},"Commissariat A L'energie Atomique",{"name":431,"class":492},"OTHER",{"name":494,"class":492},"Central Hospital, Nancy, France",{"name":496,"class":492},"Nantes University Hospital",{"name":498,"class":492},"Imagine Institute",{"name":500,"class":492},"APHP",{"name":502,"class":492},"Hospices Civils de Lyon",{"name":504,"class":492},"Université Lumière Lyon 2",{"name":506,"class":492},"University Hospital, Toulouse","100559910",false,"NCT06570278","Role of High-Throughput Whole Genome Sequencing for the Diagnosis and Care of Atypical Diabetes","GLUCOGEN","Inclusion Criteria:\n\n* Subjects ≥18 years with confirmed diabetes mellitus according to WHO criteria (World Health Organization: Definition and diagnosis of diabetes mellitus and intermediate hyperglycemia: Report of a WHO\u002FIDF Consultation. Geneva, World Health Org., 2006.)\n* Age ≤ 45 years at diabetes diagnosis\n* Body mass index ≤ 35 kg\u002Fm² at diabetes diagnosis\n* Negative results of specific antibodies determination (GAD65, IA2, ZnT8) until the inclusion visit\n* Presenting atypical diabetes defined by at least one of the following:\n* Exocrine pancreatic disease\n* Familial history: diabetes diagnosed in a parent, child or sibling\n* Notion of familial consanguinity\n* Syndromic clinical features (dysmorphy, developmental delay, mental retardation…) or unusual abnormalities\u002Ffeatures that are not part of diabetic complications or co-morbidities;\n* Early occurrence of microvascular complications (≤ 5 years after diabetes diagnosis)\n* Major insulinopenia at diagnosis (C peptide \\\u003C 0.2 nmol\u002FL and\u002For documented ketosis)\n* Patient who conserved endogenous insulin secretion (positive C peptide value) but a need for insulin therapy initiation during the first year following diagnosis due to therapeutic failure of well conducted therapeutic intensification\n* Stated willingness to comply with all study procedures and availability for the duration of the study\n* Patient with a social security number in compliance with the French law (dispositions relatives aux recherches impliquant la personne humaine prévues aux articles L 1121-1 et suivants du Code de la Santé Publique)\n* Signed and dated informed consent form\n\nExclusion Criteria:\n\n* Pregnant or breastfeeding woman,\n* Any contraindication to the study exams including known allergies or contraindication to contrasts for the scan\n* Patient with known monogenic diabetes (defined as identification of class 4 and 5 variants according to ACMG)\n* First or second-degree relatives with monogenic diabetes established by molecular genetics (class 4 and 5 variants according to ACMG)\n* Patient with known secondary diabetes (i.e. endocrine disorders such as Cushing syndrome, pancreatectomy, drug-induced diabetes)\n* Patient who had a bone marrow transplant\n* Any condition which in the Investigator's opinion makes it undesirable for the subject to participate in the trial or which would jeopardize compliance with the protocol,\n* Individuals under legal protection (sauvegarde de justice).","ALL","18 Years",{"count":516,"type":517},1020,"ESTIMATED","INTERVENTIONAL",[520],"NA","The main objective of the study is to assess the contribution of whole genome sequencing (WGS) coupled with a multidisciplinary conciliation meeting (MCM) on diagnosis of atypical forms of diabetes compared to an in-silico analysis of a panel of validated genes (ISApanel), corresponding to current practice, in a randomized trial.\n\nNotably, the questions it aims to answer are:\n\n* The feasibility of the WGS coupled with MCM on diagnosis of atypical forms of diabetes,\n* The contribution of WGS coupled with MCM on number of genetic alterations likely causal of diabetes identified and with a modification in care and support of patients.\n\nAfter inclusion and sampling for genotyping, patients will be followed for 5 years.\n\nThe target population is 1020 adults with atypical diabetes for whom it is possible to obtain a blood sample.",[523],"Diabetes Mellitus",[525,526,527],"Next generation sequencing genome","Diagnostic study","Medico-economic study","2026-04-08",{"date":530,"type":531},"2026-04-09","ACTUAL",{"date":533,"type":531},"2024-10-30",{"date":535,"type":517},"2034-11",{"name":5,"class":6},26]