[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"genetic\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:genetic":24},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,40],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":11,"sex":15,"minAge":16,"maxAge":17,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":25,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":28,"lastUpdatePostDateStruct":29,"startDateStruct":32,"completionDateStruct":34,"leadSponsor":36,"locationsCount":39},"100631584","turner-syndrome-genetic-considerations-100631584",false,"NCT07502586","Turner Syndrome: Genetic Considerations","* INCLUSION CRITERIA:\n\n  1. Turner syndrome diagnosis based on karyotype\n  2. Any age\n  3. Biological parent of Turner syndrome patient\n  4. Relatives of Turner syndrome patient\n  5. The subject from protocol 20CH0126 will enroll in this study only when they agree to be referred to the 17I0122 NIAID study. They can withdraw participation in the 17I0122 study if they do not want to have their genetic data in this database\n\nEXCLUSION CRITERIA:\n\n1\\. Diagnosis other than Turner syndrome","ALL","1 Day","110 Years",{"count":19,"type":20},500,"ESTIMATED","OBSERVATIONAL","Background:\n\nTurner syndrome (TS) is a rare genetic condition. It happens when a person is born missing all or part of an X sex chromosome. People with TS can have heart defects, short stature, autoimmune conditions, and malformations. Many women with TS never have periods and cannot conceive; however, some women have normal ovaries (egg cells). Researchers want to learn more about why some women with TS are fertile and others are not. To do this, they need to be able to compare the genes of many women who have TS.\n\nObjective:\n\nTo create a genetic database of people with TS.\n\nEligibility:\n\nPeople of any age with TS. Biological parents and other relatives are also needed.\n\nDesign:\n\nParticipants who agree to join this study will be asked to enroll in a second study; that study is called NIAID Centralized Sequencing Protocol (Protocol No. 17I0122).\n\nParticipants will have 1 study visit. They may fill out a survey or do an interview. They will provide blood, saliva, or other tissue samples. Those samples will be used for genetic tests. The visit will take 1 hour.\n\nThe information collected in those tests will be collected for use in the database created as part of this study.",[24],"Genetic",[26],"Gynecology disorder","RECRUITING","2026-05-12",{"date":30,"type":31},"2026-05-13","ACTUAL",{"date":33,"type":31},"2026-03-24",{"date":35,"type":20},"2028-08-31",{"name":37,"class":38},"Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)","NIH",1,{"id":41,"slug":42,"hasResults":11,"nctId":43,"briefTitle":44,"officialTitle":45,"acronym":4,"eligibilityCriteria":46,"healthyVolunteers":11,"sex":15,"minAge":47,"maxAge":4,"enrollmentInfo":48,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":50,"conditions":51,"keywords":54,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":58,"lastUpdatePostDateStruct":59,"startDateStruct":61,"completionDateStruct":63,"leadSponsor":65,"locationsCount":39},"100641056","aic-genotyping-study-100641056","NCT07574697","AIC Genotyping Study","Genetic Susceptibility to AF-Induced Cardiomyopathy","INCLUSION:\n\nAIC (Cases):\n\n* Age ≥18\n* Persistent AF before index catheter ablation or cardioversion\n* LVEF ≤40% during rate-controlled (resting HR \\\u003C100bpm, mean HR on 24-hour Holter \\\u003C100bpm) AF prior to index catheter ablation or cardioversion\n* LVEF normalisation (LVEF ≥55%) in SR, post-catheter ablation or cardioversion (≥3 months post-catheter ablation or cardioversion), no AF (\\>30 seconds of continuous AF) detected outside blanking period (8 weeks post-catheter ablation), and with no new introduction of any new or increased dose of heart failure guideline-directed medical therapy (GDMT) (renin-angiotensin-aldosterone system inhibitors (RAASi), Sodium Glucose Co-transporter 2 (SLGT2) inhibitors, increased dose of beta-blocker (BB), mineralocorticoid receptor antagonist (MRA))\n\nAF-pEF (Negative controls):\n\n* Age ≥18\n* Persistent AF before index catheter ablation or cardioversion\n* LVEF ≥55% during rate-controlled (resting HR \\\u003C100bpm) AF. AIC-genotyping study, v1.7, 27.01.26 Page 13 of 28\n\nAF\u002FHF non-responders (Positive controls)\n\n* Age ≥18\n* Persistent AF before index catheter ablation or cardioversion\n* LVEF ≤40% during rate-controlled (resting HR \\\u003C100bpm) AF before index catheter ablation or cardioversion.\n* Persistent LVSD (LVEF ≤40%) in SR, post-catheter ablation or cardioversion (≥3 months post-catheter ablation or cardioversion), no AF (\\>30 seconds of continuous AF) detected outside blanking period (8 weeks post-catheter ablation) and with no change in heart failure GDMT (RAASi, SGLT2 inhibitors, increased dose of BB, MRA).\n\nEXCLUSION:\n\nAIC (Cases).\n\n* No alternative cause for LVSD (ischemic cardiomyopathy\u002Fnon-ischaemic cardiomyopathy before AF diagnosis, primary valve disease, inherited cardiomyopathy\n* Any pregnancy during AF or in the 12 months preceding LVSD onset.\n* Alcohol intake \\>21 units\u002Fweek\n* Any history of cardiotoxic chemotherapy\n\nAF-pEF (Negative controls)\n\n* No known cause for LVSD (ischemic cardiomyopathy\u002Fnon-ischaemic cardiomyopathy before AF diagnosis, primary valve disease, inherited cardiomyopathy).\n* Any pregnancy during AF or in the 12 months preceding LVSD onset.\n* Alcohol intake \\>21 units\u002Fweek.\n* Any history of cardiotoxic chemotherapy.\n\nAF\u002FHF non-responders (Positive controls)\n\n* No alternative cause for LVSD (ischemic cardiomyopathy\u002Fnon-ischaemic cardiomyopathy before AF diagnosis, primary valve disease, inherited cardiomyopathy).\n* Any pregnancy during AF or in the 12 months preceding LVSD onset.\n* Alcohol intake \\>21 units\u002Fweek.\n* Any history of cardiotoxic chemotherapy.","18 Years",{"count":49,"type":20},299,"To quantify genetic variants in a focused DCM gene panel among AF-induced cardiomyopathy (AIC) and positive\u002Fnegative controls",[52,53,24],"Cardiomyopathy","Atrial Fibrillation (AF)",[55,56,57],"prospective","case-controlled","genetics","2026-05-05",{"date":60,"type":31},"2026-05-08",{"date":62,"type":31},"2026-03-25",{"date":64,"type":20},"2027-05-31",{"name":66,"class":67},"Barts & The London NHS Trust","OTHER"]