[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"monogenic-diabetes\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:monogenic-diabetes":25},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,7,0,[8,39,70,94,122,142,169],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":15,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":4,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":28,"lastUpdatePostDateStruct":29,"startDateStruct":32,"completionDateStruct":34,"leadSponsor":36,"locationsCount":4},"100636348","application-of-freestyle-libre-2-for-evaluating-glycemic-variability-characteristics-in-patients-with-extreme-glucose-metabolism-phenotypes-100636348",false,"NCT07564518","Application of FreeStyle Libre 2 for Evaluating Glycemic Variability Characteristics in Patients With Extreme Glucose Metabolism Phenotypes","1. Inclusion Criteria:\n\n   1. Group A1:\n\n      * Age ≥ 18 years;\n      * Patients with β cell dysfunction monogenic diabetes confirmed by DNA sequencing or other diagnostic testing.\n   2. Group A2:\n\n      * Age ≥ 18 years;\n      * Patients with confirmed type 2 diabetes mellitus;\n      * Derived from this center's existing continuous glucose monitoring (CGM) database.\n   3. Group B1:\n\n      * Age ≥ 18 years;\n      * Normal fasting plasma glucose (≥ 3.6 and \\\u003C 6.1 mmol\u002FL) and normal 2-hour plasma glucose during OGTT (≥ 3 and \\\u003C 7.8 mmol\u002FL);\n      * Fasting insulin ≥ 25 µU\u002FmL and\u002For 2-hour insulin during OGTT greater than 10 times the fasting insulin level.\n   4. Group B2:\n\n      * Age ≥ 18 years;\n      * Normal glucose tolerance meeting the 2024 ADA criteria: fasting plasma glucose \\\u003C 5.6 mmol\u002FL, 2-hour plasma glucose during OGTT \\\u003C 7.8 mmol\u002FL;\n      * According to laboratory reference standards, fasting insulin ≥ 2.6 and \\\u003C 25 µU\u002FmL, and 2-hour insulin during OGTT 5-10 times the fasting insulin level.\n      * Derived from this center's existing continuous glucose monitoring (CGM) database.\n2. Exclusion Criteria:\n\n   1. Neonates younger than 4 months of age (congenital diabetes);\n   2. Pregnancy;\n   3. Patients with positive pancreatic autoantibody test results;\n   4. Patients with severe cardiovascular or cerebrovascular diseases, hepatic disease, or renal disease;\n   5. Patients who have participated in other clinical trials.",true,"ALL","18 Years","75 Years",{"count":20,"type":21},120,"ESTIMATED","OBSERVATIONAL","This cross-sectional study aims to further subdivide diabetes mellitus into more homogeneous subgroups by focusing on extreme glucose metabolism phenotypes, including monogenic diabetes with β cell dysfunction, hyperinsulinemia caused by excessive β cell secretion, and postprandial hypoglycemia phenotypes. By utilizing continuous glucose monitoring (CGM) technology and the FreeStyle Libre 2 glucose monitoring device, this study will evaluate glycemic variability patterns in patients with extreme glucose metabolism phenotypes and perform comparative analyses using existing CGM data from healthy populations and patients with type 2 diabetes in our center's database. The study aims to address current gaps in understanding glycemic variability characteristics under extreme β cell functional states, provide novel dynamic monitoring evidence to support early identification, precise classification, and personalized management of these special metabolic states, and simultaneously screen for biomarkers to enable more accurate disease identification, thereby offering potential avenues for improving personalized treatment of diabetes mellitus.",[25,26],"Monogenic Diabetes","Hyperinsulinemia","NOT_YET_RECRUITING","2026-05-31",{"date":30,"type":31},"2026-06-02","ACTUAL",{"date":33,"type":21},"2026-05-25",{"date":35,"type":21},"2027-01-09",{"name":37,"class":38},"Peking University People's Hospital","OTHER",{"id":40,"slug":41,"hasResults":11,"nctId":42,"briefTitle":43,"officialTitle":44,"acronym":45,"eligibilityCriteria":46,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":47,"enrollmentInfo":48,"targetDuration":4,"studyType":50,"phases":51,"briefSummary":53,"conditions":54,"keywords":56,"overallStatus":59,"whyStopped":4,"lastUpdateSubmitDate":60,"lastUpdatePostDateStruct":61,"startDateStruct":63,"completionDateStruct":65,"leadSponsor":67,"locationsCount":69},"100591148","phase-2-glucokinase-activator-in-monogenic-diabetes-100591148","NCT06976658","Glucokinase Activator in Monogenic Diabetes","Evaluating a Novel, Allosteric Glucokinase Activator in Monogenic Diabetes Secondary to Inactivating Glucokinase Mutations: a Randomised, Cross-over Trial","RESENSE","Inclusion Criteria:\n\n1. Age ≥18 and \\\u003C75 years\n2. body mass index (BMI) \\>18 and \\\u003C30 kg\u002Fm2\n3. fasting plasma glucose \\>5.6 mmol\u002FL at screening\n4. Participants with GCK-MODY had and are heterozygous carriers of a pathogenic or likely pathogenic GCK mutation at screening based on guidelines published by the American College of Medical Genetics and Genomics (ACMG), Association for Clinical Genomic Science (ACGS) and the ClinGen Monogenic Diabetes Expert Panel (MDEP) .\n\nExclusion Criteria:\n\n1. Body weight \\\u003C45kg at screening\n2. Current or planning pregnancy or lactating\n3. troke or cardiovascular disease within 6 months of recruitment\n4. severe renal dysfunction (estimated glomerular filtration rate \\\u003C30mL\u002Fmin\u002F1.73m2 or renal replacement therapy)\n5. severe hepatic dysfunction (aspartate transaminase and\u002For alanine transaminase \\> 3 times upper limit of normal)\n6. history of drug abuse or excessive alcohol intake\n7. severe hypoglycemia within 6 months prior to screening\n8. anaemia with Hb \\\u003C10 g\u002FdL at screening\n9. excessive blood loss \\>300mL within 1 month of screening\n10. use of strong or moderate CYP3A4 inhibitors or inducers\n11. use of sulfonylureas, dipeptidyl peptidase-4 inhibitors, glucagon-like peptide-1 agonists, sodium glucose transporter 2 inhibitors, insulin, thiazolidinediones, acarbose in the 6 weeks prior to randomisation\n12. use of long-term high-dose corticosteroids at randomisation\n13. serious concurrent infections at time of screening","74 Years",{"count":49,"type":21},44,"INTERVENTIONAL",[52],"PHASE2","Evaluating a novel, allosteric glucokinase activator in monogenic diabetes secondary to inactivating glucokinase mutations: a randomised, cross-over trial",[55,25],"Diabetes Mellitus",[57,58],"GCK-MODY","glucokinase activator","RECRUITING","2026-04-25",{"date":62,"type":31},"2026-04-30",{"date":64,"type":31},"2025-04-30",{"date":66,"type":21},"2026-12-31",{"name":68,"class":38},"Chinese University of Hong Kong",1,{"id":71,"slug":72,"hasResults":11,"nctId":73,"briefTitle":74,"officialTitle":74,"acronym":75,"eligibilityCriteria":76,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":77,"targetDuration":79,"studyType":22,"phases":4,"briefSummary":80,"conditions":81,"keywords":84,"overallStatus":59,"whyStopped":4,"lastUpdateSubmitDate":85,"lastUpdatePostDateStruct":86,"startDateStruct":88,"completionDateStruct":90,"leadSponsor":92,"locationsCount":69},"100630771","china-monogenic-diabetes-registry-100630771","NCT07492004","China Monogenic Diabetes Registry","CMDR","Inclusion Criteria:\n\n1. Diabetes diagnosed before 25 years of age; OR diabetes diagnosed before 35 years of age with ≥1 first-degree relative (parent, sibling, or offspring) diagnosed with diabetes before 40 years of age\n2. Body mass index (BMI) at diagnosis 28 kg\u002Fm²\n3. Negative glutamic acid decarboxylase antibody (GAD-Ab)\n\nExclusion Criteria:\n\n1. Secondary diabetes\n2. Active malignancy or history of malignant tumor within the past 5 years",{"count":78,"type":21},5000,"5 Years","This observational study aims to establish a digital registry, screening platform for patients with monogenic diabetes using internet-based and mobile application technologies. The primary objectives are to:\n\nCharacterize the genetic landscape of monogenic diabetes in the Chinese population, including pathogenic variants and their distribution\n\nParticipants will:\n\n* Enroll in the monogenic diabetes registry via mobile application or web-based platform\n* Undergo molecular genetic testing to establish a definitive diagnosis",[82,25,83],"Neonatal Diabetes","Maturity Onset Diabetes of the Young",[25,82,83],"2026-03-19",{"date":87,"type":31},"2026-03-25",{"date":89,"type":31},"2021-02-28",{"date":91,"type":21},"2030-07-31",{"name":93,"class":38},"Tianjin Medical University General Hospital",{"id":95,"slug":96,"hasResults":11,"nctId":97,"briefTitle":98,"officialTitle":98,"acronym":99,"eligibilityCriteria":100,"healthyVolunteers":15,"sex":16,"minAge":101,"maxAge":102,"enrollmentInfo":103,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":105,"conditions":106,"keywords":108,"overallStatus":59,"whyStopped":4,"lastUpdateSubmitDate":113,"lastUpdatePostDateStruct":114,"startDateStruct":116,"completionDateStruct":118,"leadSponsor":120,"locationsCount":69},"100552825","understanding-beta-cell-disorders-through-the-study-of-rare-genotypes-endure-100552825","NCT06478121","Understanding Beta Cell Disorders Through the Study of Rare Genotypes (ENDURE)","ENDURE","Inclusion Criteria\n\n* Mental capacity to give informed consent\n* Of any sex, ethnicity, location.\n* Group 1: Cases will have a genetic variant(s) resulting in a beta cell disorder.\n* Group 2: Controls will not have a genetic variant(s) resulting in a beta cell disorder and will be matched to a Case for sex, age (+\u002F- 15%) and BMI (+\u002F- 3 kg\u002Fm2).\n\nExclusion Criteria\n\n* Lack of mental capacity to give informed consent\n* Age \\\u003C6 years; \\>99 years\n\nAdditional exclusions for MRI assessments:\n\n* Cochlear Implant\n* Aneurysm Clips\n* Neurological stimulator\n* Implanted cardiac devices (ICD, PPM, loop recorders, or any others)\n* Metal heart valve\n* History of metal foreign bodies in orbits\n* Other implanted metal device which prevents MRI\n* Known claustrophobia.","6 Years","99 Years",{"count":104,"type":21},50,"This observational 'recruit by genotype' study aims to provide insights into the cellular and molecular pathways underlying beta cell disorders and their physiological consequences. Eligible individuals are those with and without a pathogenic genetic variant, acting as case and control, respectively. Using a \"recruit by genotype\" approach, the researchers will perform detailed and specific analysis according to the individual's genetic variant.\n\nThe study's main aims are to : 1) identify and describe biomarkers and cellular features in blood samples that occur because of the rare causal genetic variant; 2) study the altered physiology or cellular function that are due to the rare causal genetic variant.\n\nParticipants will attend a study visit that will entail:\n\n* Consent\n* Data collection\n* Height and weight measures\n* Blood samples\n* MRI (optional), dependent on genotype and sub-study objectives.\n\nThere is no treatment and the participants' normal clinical care will be unaffected and will continue uninterrupted.\n\nA small subset of participants may be invited for further sub-studies in the future. Researchers may recruit sex-matched healthy controls (without the variant of interest) with similar age and BMI (age: +\u002F-15%, BMI: +\u002F- 3 kg\u002Fm2) for specified case-control studies.",[55,25,107],"Hyperinsulinism",[25,107,109,110,111,112],"Beta cell disorders","Genotype-to-phenotype","Causal genetic variant","Beta cell","2026-01-14",{"date":115,"type":31},"2026-01-16",{"date":117,"type":31},"2025-11-11",{"date":119,"type":21},"2029-02-28",{"name":121,"class":38},"University of Exeter",{"id":123,"slug":124,"hasResults":11,"nctId":125,"briefTitle":126,"officialTitle":126,"acronym":4,"eligibilityCriteria":127,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":128,"targetDuration":4,"studyType":50,"phases":130,"briefSummary":132,"conditions":133,"keywords":4,"overallStatus":59,"whyStopped":4,"lastUpdateSubmitDate":134,"lastUpdatePostDateStruct":135,"startDateStruct":137,"completionDateStruct":139,"leadSponsor":141,"locationsCount":69},"100573463","screening-and-molecular-diagnosis-based-individualized-precision-management-of-monogenic-diabetes-100573463","NCT06746610","Screening and Molecular Diagnosis-based Individualized Precision Management of Monogenic Diabetes","Inclusion Criteria:\n\n1. Diabetes patients who developed before 25 years old; Or they were diagnosed with diabetes before the age of 35, and two or more immediate relatives were diagnosed with diabetes before the age of 45;\n2. Body mass index (BMI) at diagnosis \\\u003C 28 kg\u002Fm2;\n3. Anti glutamic acid decarboxylase antibody (GAD Ab), anti islet cell antibody (ICA Ab), and anti insulin autoantibody (IAA Ab) were all negative;\n\nExclusion Criteria:\n\n1. Secondary diabetes patients with other endocrine diseases, such as hyperthyroidism or hypothyroidism, hyperparathyroidism or hypothyroidism, acromegaly, Cushing's syndrome, autoimmune multiple endocrine diseases, etc.;\n2. Systemic use of corticosteroids, immunosuppressants, and other drugs within the past 6 months;\n3. Patients with malignant tumors.",{"count":129,"type":21},2000,[131],"NA","The goal of this observational study is to establish a registry, screening, and individualized management platform for patients with monogenic diabetes mellitus(MDM) using internet-based and mobile application software. The main questions it aims to answer are:\n\n* What are the genetic mutations causing MDM in China (genetic landscape)?\n* How effective and safe is the individualized, molecular-diagnosis-based management platform for MDM in improving patient outcomes?\n\nParticipants will:\n\n* Register in the MDM platform via mobile app or internet-based software\n* Undergo genetic screening for MDM diagnosis\n* Participate in follow-up visits for individualized management and monitoring of blood glucose control and outcomes",[25],"2024-12-18",{"date":136,"type":31},"2024-12-24",{"date":138,"type":31},"2022-08-01",{"date":140,"type":21},"2027-07-31",{"name":93,"class":38},{"id":143,"slug":144,"hasResults":11,"nctId":145,"briefTitle":146,"officialTitle":147,"acronym":148,"eligibilityCriteria":149,"healthyVolunteers":15,"sex":16,"minAge":150,"maxAge":151,"enrollmentInfo":152,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":153,"conditions":154,"keywords":4,"overallStatus":59,"whyStopped":4,"lastUpdateSubmitDate":160,"lastUpdatePostDateStruct":161,"startDateStruct":163,"completionDateStruct":165,"leadSponsor":167,"locationsCount":69},"100361639","monogenic-diabetes-misdiagnosed-as-type-1-100361639","NCT03988764","Monogenic Diabetes Misdiagnosed as Type 1","Accurate Diagnosis of Diabetes for Appropriate Management","ADDAM","Inclusion Criteria:\n\n* Diagnosis of diabetes under the age of 25 as either type 1 or undetermined type.\n\nExclusion Criteria:\n\n* Existing T1D autoantibody testing with a positive result","1 Day","25 Years",{"count":78,"type":21},"The study has two aims:\n\n1. To (1a) determine the frequency of monogenic diabetes misdiagnosed as type 1 diabetes (T1D) and (2) to define an algorithm for case selection.\n2. To discover novel genes whose mutations cause monogenic diabetes misdiagnosed as T1D.",[155,25,82,156,157,158,159],"Diabetes Mellitus, Type 1","Maturity-onset Diabetes in the Young (MODY)","Wolfram Syndrome","Wolcott-Rallison Syndrome","Mitochondrial Diabetes","2024-12-06",{"date":162,"type":31},"2024-12-10",{"date":164,"type":31},"2019-09-24",{"date":166,"type":21},"2025-12-31",{"name":168,"class":38},"McGill University Health Centre\u002FResearch Institute of the McGill University Health Centre",{"id":170,"slug":171,"hasResults":11,"nctId":172,"briefTitle":173,"officialTitle":174,"acronym":4,"eligibilityCriteria":175,"healthyVolunteers":11,"sex":16,"minAge":176,"maxAge":177,"enrollmentInfo":178,"targetDuration":4,"studyType":50,"phases":180,"briefSummary":181,"conditions":182,"keywords":185,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":189,"lastUpdatePostDateStruct":190,"startDateStruct":192,"completionDateStruct":194,"leadSponsor":196,"locationsCount":4},"100484327","identifying-maturity-onset-diabetes-of-the-young-in-emirati-patients-100484327","NCT05586594","Identifying Maturity-onset Diabetes of the Young in Emirati Patients","Identifying Maturity-onset Diabetes of the Young in Susceptible Emirati Patients Who Are Currently Treated as Type 1 or Type 2 Diabetes Mellitus","Inclusion Criteria:\n\n* Age \\> 11; both male or female, Emirati patients only\n* Diagnosed to have Type 1 or Type 2 Diabetes Mellitus diagnosed before the age of 40 and after the age of 6 months.\n* Attended Tawam hospital during the last 1 year.\n* All previous antibodies testing being negative.\n* Absence of ketoacidosis \u002F significant ketosis in the past medical records\n\nExclusion Criteria:\n\n* BMI of 40 or above (class 3 \u002F severe obesity)\n* History of Secondary diabetes (e.g. Diabetes following pancreatitis)\n* Absent\u002FDecreased C-peptide activity suggestive of Type 1 Diabetes","12 Years","45 Years",{"count":179,"type":21},150,[131],"Diabetes Mellitus is a disease that affects nearly 1 in 5 people in United Arab Emirates and is one of leading causes of death and disability. The main reason for this condition is either relative or near complete deficiency of essential hormone made by our pancreas called \"insulin\", which is required to utilize blood sugar (glucose), and insulin shortage leads to increased blood glucose. The common types of this condition include type 2 Diabetes Mellitus (the most common with almost 90% of all diabetes patients having this condition), which is related to mismatch of body requirements and production of essential hormone called insulin (relative deficiency) and type 1 diabetes, in which body's own defense system causes of destruction of insulin producing cells in the pancreas (near complete deficiency of insulin). However, in younger age group (below the age of 35) there is another type of diabetes which affects nearly 1 out 1000 people and is Maturity onset diabetes of the young (MODY). MODY is a condition passed by parents in 50% of the kids due to an affected single gene and most common forms of MODY do not require any Insulin treatment. However as type 1 Diabetes is generally identified in younger age group, 80% of patient who have MODY cannot be diagnosed and are labelled with other forms of diabetes instead, and may receive unnecessary insulin injections. Although, there has been a lot of research done in the west on prevalence of MODY in white\u002FCaucasian population, the studies in Middle East are minimal. Also, in the white\u002FCaucasian population, a reliable risk calculator has been developed that predicts the risk of having MODY, which if found to be high, is then confirmed by genetic testing for MODY. There is no study available on presence of MODY or on the reliability of the MODY risk calculator among young Emirati population. There is also no data on MODY being misdiagnosed as other forms of diabetes in Emirati population.\n\nThis study proposal aims to address this gap of knowledge and assess the reliability of MODY calculator in young Emirati patients with diabetes and to see if any MODY patient exist in Diabetes clinics of Tawam hospital Abu Dhabi, who may have been misdiagnosed as type 1 or type 2.",[183,25,184],"Maturity-onset Diabetes of the Young","MODY",[186,55,187,188],"Maturity-onset Diabetes of the Young (MODY)","Diagnosis","Precision Medicine","2024-01-10",{"date":191,"type":31},"2024-01-11",{"date":193,"type":21},"2024-03",{"date":195,"type":21},"2026-06",{"name":197,"class":38},"United Arab Emirates University"]