[{"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,3,0,[8,40,65],{"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 currently enrolled, or interested in enrolling in protocol 20-CH-0126. 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","2026-08-05",{"date":30,"type":31},"2026-08-06","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":44,"acronym":45,"eligibilityCriteria":46,"healthyVolunteers":11,"sex":15,"minAge":47,"maxAge":48,"enrollmentInfo":49,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":51,"conditions":52,"keywords":4,"overallStatus":54,"whyStopped":4,"lastUpdateSubmitDate":55,"lastUpdatePostDateStruct":56,"startDateStruct":58,"completionDateStruct":60,"leadSponsor":62,"locationsCount":39},"100646765","a-study-of-the-value-of-trio-genome-sequencing-in-the-etiological-evaluation-of-early-onset-andor-atypical-psychiatric-disorders-without-intellectual-disability-or-congenital-anomalies-100646765","NCT07686653","A Study of the Value of Trio Genome Sequencing in the Etiological Evaluation of Early-Onset and\u002For Atypical Psychiatric Disorders Without Intellectual Disability or Congenital Anomalies","PSYGEN","Inclusion Criteria:\n\n* Index case with one or more psychiatric disorders confirmed by a psychiatrist and\u002For child psychiatrist, whose evaluations may be supplemented as needed as part of their care, and who meets at least ONE of the following criteria for atypicality:\n* Early age of onset\n* Unusual course of the disorder (polymorphic\u002Ffluctuating)\n* Treatment resistance\n* Disorder classified as \"unspecified\" by the DSM-5 with significant functional impact\n* Index case aged 3 to 50 years, inclusive\n* Consent signed by the biological parents and by the \"index case, if of legal age\"\n* Index case and their parents enrolled in or eligible for a social security program\n* Sample collection possible from the index case and their two known biological parents\n\nExclusion Criteria:\n\n* Genetic testing previously performed (CGH array, targeted gene testing, gene panel, etc.)\n* Parent(s) and\u002For the index case subject to a court-ordered protective measure\n* The index case and his or her parents have a condition that, in the investigator's opinion, would contraindicate the subject's participation in the study\n* Presence of an intellectual developmental disorder confirmed by a neuropsychological test or strongly suspected clinically in the index case and\u002For their parents\n* Index case with a clear syndromic diagnosis\n* Index case with a psychiatric disorder already covered by a pre-indication under PFMG2025.","3 Years","50 Years",{"count":50,"type":20},255,"According to the World Health Organization, one in eight people worldwide has a mental disorder, defined as a significant impairment in thinking, emotional regulation, or behavior. These disorders are classified according to the DSM-5. These psychiatric disorders may be atypical in terms of their age of onset, course of the illness, unusual response to treatment, or classification (significant impact but classified as a \"disorder not otherwise specified\" by the DSM-5). These disorders can occur sporadically or run in families.\n\nIn France, there are no genetic testing recommendations for these patients. A CGH-array analysis may be ordered as part of patient care, as may testing for Fragile X syndrome, depending on the clinical context.\n\nThe main hypothesis is that atypical psychiatric disorders result from multifactorial inheritance, involving a combination of common genetic variations and environmental factors. Pangenomic association studies and twin studies have already demonstrated heritability in these psychiatric disorders. It has now been shown that some neurodevelopmental disorders (NDDs) and psychiatric disorders-such as autism spectrum disorders or schizophrenia, for which similar hypotheses were proposed in the past-may result from monogenic inheritance. Furthermore, preliminary indications now allow for the prescription of genome sequencing on the platforms of the France Genomic Medicine Plan 2025.\n\nTo date, no study has evaluated the role of high-throughput sequencing in an etiological approach to atypical, non-syndromic psychiatric disorders. Through this study, we aim to assess whether genome sequencing (GS) could be relevant for atypical, non-syndromic psychiatric disorders, which would be the case if it leads to an etiological diagnosis in at least 12% of cases.\n\nThe establishment of the GénoPsy network (Centers of Excellence for Behavioral Disorders in Developmental Disorders) creates an environment that is highly conducive to the development of this project.",[24,53],"Diagnostic Strategies","NOT_YET_RECRUITING","2026-06-30",{"date":57,"type":31},"2026-07-07",{"date":59,"type":20},"2026-09",{"date":61,"type":20},"2029-05",{"name":63,"class":64},"Centre Hospitalier Universitaire Dijon","OTHER",{"id":66,"slug":67,"hasResults":11,"nctId":68,"briefTitle":69,"officialTitle":70,"acronym":4,"eligibilityCriteria":71,"healthyVolunteers":11,"sex":15,"minAge":72,"maxAge":4,"enrollmentInfo":73,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":75,"conditions":76,"keywords":79,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":83,"lastUpdatePostDateStruct":84,"startDateStruct":86,"completionDateStruct":88,"leadSponsor":90,"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":74,"type":20},299,"To quantify genetic variants in a focused DCM gene panel among AF-induced cardiomyopathy (AIC) and positive\u002Fnegative controls",[77,78,24],"Cardiomyopathy","Atrial Fibrillation (AF)",[80,81,82],"prospective","case-controlled","genetics","2026-05-05",{"date":85,"type":31},"2026-05-08",{"date":87,"type":31},"2026-03-25",{"date":89,"type":20},"2027-05-31",{"name":91,"class":64},"Barts & The London NHS Trust"]