[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"genetic-variation\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:genetic-variation":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,52],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":24,"conditions":25,"keywords":31,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":40,"lastUpdatePostDateStruct":41,"startDateStruct":44,"completionDateStruct":46,"leadSponsor":48,"locationsCount":51},"100639957","specificities-of-atypical-non-autoimmune-diabetes-anaid-in-the-french-west-indies-100639957",false,"NCT07576374","Specificities of Atypical Non AutoImmune Diabetes (ANAID) in the French West Indies","Epidemiological, Clinical, Biological and Genetic Specificities of Atypical Non-AutoImmune Diabetes (ANAID) in the French West Indies","DiAGeNA","Inclusion Criteria:\n\nPhenotypic criteria :\n\nSubjects from Indian or African Ancestry self-declared\n\nAge criteria at diagnosis:\n\nEarly onset of diabetes: patient aged between 18 and 47 years at the time of diagnosis of diabetes Clinical criteria: at least 2 criteria Labeled type 2 diabetic\n\nPatient hospitalized for:\n\nKetoacid decompensation Significant weight loss (more than 10% in less than 6 months) without obvious etiology Lipodystrophic \u002F lipoatrophic appearance Presence of an associated myopathy or deafness Presence of early inaugural nephropathy or within 3 years after diagnosis Presence of early inaugural heart disease or within 3 years after diagnosis Poor response to non-insulin treatments despite good adherence\n\nBiological criteria:\n\nAbsent T1D autoantibodies:\n\nAnti-islet antibodies (ICA) Anti-IA2 antibodies Anti-insulin antibodies Anti-ZnT8 antibodies Anti-GAD antibodies\n\nOther criteria:\n\nInformed consent signed by the patient\n\nExclusion Criteria:\n\nType 1 diabetes (T1D) Presence of T1D antibodies Secondary diabetes (pancreas diseases, endocrine diseases, drug intake, infection) Other associated autoimmune pathologies Pregnancy Refusal to participate","ALL","18 Years","47 Years",{"count":21,"type":22},118,"ESTIMATED","OBSERVATIONAL","Genetics variants could be involved in atypical non-autoimmune diabetes revealed by ketoacidosis. The objective of this research will be to determine the relationships between the genetic variants already described in known monogenic diabetes or identified as involved in glucose metabolism and its regulation, in insulin signaling pathways or in insulin secretion itself in subjects of African and Indian ancestry with atypical forms of non autoimmune diabetes.",[26,27,28,29,30],"Metabolic Diseases","Diabetes Mellitus (Type 2)","Genetic Variation","Genetic Profile","Glucose Metabolism Disorders",[32,33,34,35,36,37,38],"Genetic diagnosis","Monogenic diabetes","Exome sequencing","Pathogenic variant","Ketoacidosis","Afro-Caribbean","African and Indian ancestry","NOT_YET_RECRUITING","2026-05-04",{"date":42,"type":43},"2026-05-08","ACTUAL",{"date":45,"type":22},"2026-06",{"date":47,"type":22},"2029-09",{"name":49,"class":50},"Centre Hospitalier Universitaire de la Guadeloupe","OTHER",1,{"id":53,"slug":54,"hasResults":11,"nctId":55,"briefTitle":56,"officialTitle":57,"acronym":4,"eligibilityCriteria":58,"healthyVolunteers":11,"sex":59,"minAge":18,"maxAge":60,"enrollmentInfo":61,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":63,"conditions":64,"keywords":4,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":66,"lastUpdatePostDateStruct":67,"startDateStruct":69,"completionDateStruct":71,"leadSponsor":73,"locationsCount":51},"100580124","familial-breast-cancer-in-china-100580124","NCT06833216","Familial Breast Cancer in China","A Real-world Study of Familial Hereditary Breast Cancer in China","Inclusion Criteria:\n\n* Familial inherited breast cancer with genetic variants, including but not limited to mutations in the BRCA1, BRCA2, TP53, and PALB2 genes\n* The patient had no major organ dysfunction\n* ECOG score 0-1\n\nExclusion Criteria:\n\n* There are serious dysfunction of vital organs (heart, liver, kidney)\n* Patients with other malignancies, except cured non-melanoma skin cancer, cervical carcinoma in situ and other tumors that have been cured for at least 5 years\n* In other acute infectious disease or chronic infectious disease activity period\n* A history of uncontrolled seizures, central nervous system disorders, or mental disorders","FEMALE","75 Years",{"count":62,"type":22},500,"This study is a retrospective descriptive study to collect clinical data (mainly including medical records and follow-up information, etc.) of breast cancer patients with genetic variation who were first diagnosed and treated in a number of hospitals in China during the period from January 1, 2015 to December 31, 2024, and to establish a retrospective cohort of familial hereditary breast cancer. To analyze the clinical features, diagnosis and treatment and survival prognosis of patients with familial hereditary breast cancer. To explore the main factors affecting clinical diagnosis and treatment and survival prognosis of patients",[65,28],"Breast Carcinoma","2025-02-13",{"date":68,"type":43},"2025-02-18",{"date":70,"type":22},"2025-02-28",{"date":72,"type":22},"2035-02-28",{"name":74,"class":50},"Cancer Institute and Hospital, Chinese Academy of Medical Sciences"]