[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"mody2-diabetes\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:mody2-diabetes":37},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,67],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":40,"overallStatus":54,"whyStopped":4,"lastUpdateSubmitDate":55,"lastUpdatePostDateStruct":56,"startDateStruct":59,"completionDateStruct":61,"leadSponsor":63,"locationsCount":66},"100527411","development-of-non-invasive-prenatal-diagnosis-for-single-gene-disorders-100527411",false,"NCT06147414","Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders","Evaluation of the Diagnostic Performance of Non-Invasive Prenatal Diagnosis for Single Gene Disorders","DANNIgene","Inclusion Criteria:\n\n* pregnant woman with 9 weeks of amenorrhea or more\n* singleton pregnancy\n* undergoing invasive PND in a context of family history of SGD involving the following genes : HBB, CFTR, FMR1, SMN1, DMPK, DMD, NF1, HTT, F8, F9, GCK, L1CAM, PKHD1, or undergoing prenatal counselling in a context of maternal history of diabetes MODY-GCK\n* germinal pathogenic paternal and\u002For maternal mutations previously identified\n* age 18 years old or over\n* signing an informed consent\n\nExclusion Criteria:\n\n* at risk of SGD involving a de novo pathogenic mutation in a previous child\n* woman under legal protection","FEMALE","18 Years",{"count":20,"type":21},550,"ESTIMATED","OBSERVATIONAL","Cell-free fetal DNA (cffDNA) is present in the maternal blood from the early first trimester of gestation and makes up 5%-20% of the total circulating cell-free DNA (cfDNA) in maternal plasma. Its presence in maternal plasma has allowed development of noninvasive prenatal diagnosis for single-gene disorders (SGD-NIPD). This can be performed from 9 weeks of amenorrhea and offers an early, safe and accurate definitive diagnosis without the miscarriage risk associated with invasive procedures. One of the major difficulties is distinguishing fetal genotype in the high background of maternal cfDNA, which leads to several technical and analytical challenges. Besides, unlike noninvasive prenatal testing for aneuploidy, NIPD for monogenic diseases represent a smaller market opportunity, and many cases must be provided on a bespoke, patient- or disease-specific basis. As a result, implementation of SGD-NIPD remained sparse, with most testing being delivered in a research setting.\n\nThe present project aims to take advantage of the unique French collaborative network to make SGD-NIPD possible for theoretically any monogenic disorder and any family.",[25,26,27,28,29,30,31,32,33,34,35,36,37,38,39],"Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including","Sickle Cell Disease","Cystic Fibrosis","Fragile X Syndrome","Proximal Spinal Muscular Atrophy","Myotonic Dystrophy","Muscular Dystrophy, Duchenne","Muscular Dystrophy, Becker","Neurofibromatosis-Noonan Syndrome","Huntington Disease","Hemophilia A","Hemophilia B","MODY2 Diabetes","X-Linked Hydrocephalus","Autosomal Recessive Polycystic Kidney Disease",[41,42,43,44,45,46,47,48,49,50,51,52,53],"Gene HBB","Gene CFTR","Gene FMR1","Gene SMN1","Gene DMPK","Gene DMD","Gene NF1","Gene HTT","Gene F8","Gene F9","Gene GCK","Gene L1CAM","Gene PKHD1","RECRUITING","2026-04-20",{"date":57,"type":58},"2026-04-23","ACTUAL",{"date":60,"type":58},"2024-10-23",{"date":62,"type":21},"2027-05",{"name":64,"class":65},"Assistance Publique - Hôpitaux de Paris","OTHER",1,{"id":68,"slug":69,"hasResults":11,"nctId":70,"briefTitle":71,"officialTitle":71,"acronym":72,"eligibilityCriteria":73,"healthyVolunteers":74,"sex":75,"minAge":18,"maxAge":76,"enrollmentInfo":77,"targetDuration":4,"studyType":79,"phases":80,"briefSummary":82,"conditions":83,"keywords":87,"overallStatus":54,"whyStopped":4,"lastUpdateSubmitDate":95,"lastUpdatePostDateStruct":96,"startDateStruct":98,"completionDateStruct":100,"leadSponsor":102,"locationsCount":66},"100562914","early-phase-1-cardiometabolic-benefit-of-reducing-iatrogenic-hyperinsulinemia-using-insulin-adjunctive-therapy-in-type-1-diabetes-100562914","NCT06609356","Cardiometabolic Benefit of Reducing Iatrogenic Hyperinsulinemia Using Insulin Adjunctive Therapy in Type 1 Diabetes","ACT T1D","Inclusion Criteria:\n\nAge: 18-60 years BMI: 18-28 kg\u002Fm² Weight: ≥ 50 kg\n\nT1DM Participants:\n\nDuration of T1DM: 1-30 years HbA1c: 5.7-7.5% Insulin Therapy: Using automated insulin delivery\n\nGCK-MODY Participants:\n\nHbA1c: 5.7-7.5% Genetic Confirmation: Positive GCK sequencing\n\nControl Participants:\n\nHbA1c: less than 5.5%\n\n\\*\\* Exclusion Criteria: Severe Hypoglycemia: ≥1 episode in the past 3 months\n\nComorbidities:\n\n* Any hospital admissions for diabetic ketoacidosis in the past 6 months\n* SBP greater than 140 mmHg and DBP greater than 100 mmHg\n* eGFR by MDRD equation of less than 60 mL\u002Fmin\u002F1.73 m²\n* AST or ALT greater than 2.5 times ULN\n* Hct less than 35%\n\nMedications:\n\n* Any antioxidant vitamin supplement within 2 weeks before the study\n* Any systemic glucocorticoid\n* Antipsychotics\n* Atenolol, Metoprolol, Propranolol\n* Niacin\n* Any thiazide diuretic\n* Any oral contraceptive pill with greater than 35 mcg ethinyl estradiol\n* Growth hormone\n* Any immunosuppressant\n* Antihypertensive\n* Any antihyperlipidemic\n\nOther:\n\n* Pregnancy\n* Tanner stage less than 5\n* Peri- or post-menopausal women\n* Active smoker\n\nT1DM Participants:\n\nMedications: Any diabetes medication except insulin C-peptide: greater than 0.7 ng\u002FmL (fasting)\n\nGCK-MODY Participants:\n\nNone specific",true,"ALL","60 Years",{"count":78,"type":21},27,"INTERVENTIONAL",[81],"EARLY_PHASE1","This study aims to understand the heart and blood sugar health benefits of using an adjunctive therapy to lower high insulin levels in people with type 1 diabetes. The investigators will also look at people with a specific type of diabetes called Glucokinase-Maturity Onset Diabetes of the Young (GCK-MODY) and those without diabetes to help interpret the results. The investigators will use a medication that helps the body get rid of sugar, called and SGLT2 inhibitor, with the goal to reduce the body's insulin requirements. The investigators believe this could lead to better heart and blood sugar health, including a better response to insulin and more available nitric oxide, a gas that helps blood vessels function well. The investigators will compare heart and blood sugar health risk factors in participants with type 1 diabetes, participants with Glucokinase-Maturity Onset Diabetes of the Young (GCK-MODY), and non-diabetic healthy volunteers under two conditions: high insulin levels typical of type 1 diabetes and normal insulin levels typical of the other two groups.",[84,85,37,86],"Type 1 Diabetes Mellitus","Glucokinase-Maturity Onset Diabetes of the Young (GCK-MODY)","Healthy Volunteer",[88,89,90,91,92,93,94],"type 1 diabetes mellitus","with Glucokinase-Maturity Onset Diabetes of the Young (GCK-MODY)","nitric oxide","sodium-glucose cotransporter-2 inhibitors (SGLT2i)","healthy volunteer","insulin sensitivity","flow-mediated vasodilation (FMD)","2025-12-16",{"date":97,"type":58},"2025-12-23",{"date":99,"type":58},"2025-07-03",{"date":101,"type":21},"2027-12",{"name":103,"class":65},"Vanderbilt University Medical Center"]