[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"genetic-disorder\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:genetic-disorder":25},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,47,83,109],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":29,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":37,"lastUpdatePostDateStruct":38,"startDateStruct":41,"completionDateStruct":4,"leadSponsor":43,"locationsCount":46},"100171064","inherited-reproductive-disorders-100171064",false,"NCT01500447","Inherited Reproductive Disorders","The Molecular Basis of Inherited Reproductive Disorders","* INCLUSION CRITERIA:\n\nThe essential inclusion criteria include:\n\n1. failure to go through a normal, age-appropriate, spontaneous puberty and low sex steroid levels in the setting of low\u002Fnormal gonadotropins (due to substantial variability among patient presentations, this will be based on the clinical judgement of the Investigator), or\n2. abnormally early development of puberty, or\n3. normal puberty with subsequent development of low gonadotropin levels, or\n4. individuals with features indicating an increased risk of hypogonadotropic hypogonadism.\n5. Family members: both affected and unaffected family members are strongly encouraged to participate.\n\nEXCLUSION CRITERIA:\n\nSince hypogonadotropic hypogonadism is a rare condition, this protocol remains open to enrollment so that we may study all subjects that are both qualified and interested in participating.\n\nBecause HH represents a spectrum, where associated clinical findings may provide phenotypic clues to the assessment of inheritability and underlying physiology, exclusion criteria are very limited:\n\n* Patients who have additional pituitary deficiencies, effectively ruling out isolated GnRH deficiency, whether these deficiencies are congenital or acquired (e.g. secondary to malignancy, infection, or irradiation).\n* Patients who are taking medications known to affect GnRH secretion, such as corticosteroids or continuous opiate administration (or were taking them at the time of diagnosis).","ALL","6 Weeks","120 Years",{"count":20,"type":21},850,"ESTIMATED","OBSERVATIONAL","Background:\n\n\\- During puberty, children begin to develop into adults. Problems with the hormones released during puberty can affect the reproductive system. Some people have low hormone levels that severely delay or prevent puberty. Others start puberty abnormally early. Other people may have a normal puberty but develop reproductive disorders later in life. Researchers want to study people with reproductive disorders to learn more about how these disorders may be inherited.\n\nObjectives:\n\n\\- To learn how reproductive system disorders may be inherited.\n\nEligibility:\n\n* People with one of the following problems:\n* Abnormally early puberty\n* Abnormally late or no puberty\n* Normal puberty with hormonal problems that develop later in life\n* People who have not yet had puberty but have symptoms that indicate low hormone levels.\n\nDesign:\n\n* Participants will provide a blood sample for testing. They will complete a questionnaire about their symptoms. They will also have a scratch-and-sniff test to study any problems with their ability to smell.\n* Participant medical records will be reviewed. Participants will also provide a family medical history.\n* Family members of those in the study may be invited to participate.\n* Treatment will not be provided as part of this study.",[25,26,27,28],"Genetic Disorder","Infertility","Hypogonadism","Amenorrhea",[30,31,32,33,34,35],"Hypogonadotropic Hypogonadism","Kallmann Syndrome","Delayed Puberty","Hypothalamic Amenorrhea","Precocious Puberty","Natural History","RECRUITING","2026-06-23",{"date":39,"type":40},"2026-06-24","ACTUAL",{"date":42,"type":40},"2012-04-25",{"name":44,"class":45},"National Institute of Environmental Health Sciences (NIEHS)","NIH",2,{"id":48,"slug":49,"hasResults":11,"nctId":50,"briefTitle":51,"officialTitle":51,"acronym":52,"eligibilityCriteria":53,"healthyVolunteers":11,"sex":16,"minAge":54,"maxAge":55,"enrollmentInfo":56,"targetDuration":4,"studyType":58,"phases":59,"briefSummary":61,"conditions":62,"keywords":64,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":72,"lastUpdatePostDateStruct":73,"startDateStruct":75,"completionDateStruct":77,"leadSponsor":79,"locationsCount":82},"100643744","multicenter-epidemiological-study-for-the-evaluation-of-the-seroprevalence-of-total-and-neutralizing-antibodies-against-adenoassociated-virus-serotypes-used-in-gene-therapy-in-patients-with-neuromuscular-diseases-of-genetic-origin-100643744","NCT07633951","Multicenter Epidemiological Study for the Evaluation of the Seroprevalence of Total and Neutralizing Antibodies Against Adenoassociated Virus Serotypes Used in Gene Therapy in Patients With Neuromuscular Diseases of Genetic Origin.","SeroDysMyo","Inclusion Criteria:\n\n1. Pediatric patient 6 years of age or older or adult under 60 years of age with genetic neuromuscular disease\n2. Informed patient who signed informed consent\n3. No opposition from the holders of parental authority or guardian, for minor patients.\n4. Affiliated\u002Fbeneficiary of a national health insurance scheme\n\nExclusion Criteria:\n\n* Gene or cell therapy treatment prior to blood collection","6 Years","60 Years",{"count":57,"type":21},450,"INTERVENTIONAL",[60],"NA","This study aims to assess the overall seroprevalence of neutralizing antibodies against different AAVs potentially used in gene therapy in patients with genetic neuromuscular diseases.",[63,25],"Neuromuscular Deficits",[65,66,67,68,69,70],"AAV","Seroprevalence","Nab","Tab","neuromuscular","Genetic disorder","NOT_YET_RECRUITING","2026-06-03",{"date":74,"type":40},"2026-06-08",{"date":76,"type":21},"2026-07-31",{"date":78,"type":21},"2027-12-31",{"name":80,"class":81},"Genethon","OTHER",1,{"id":84,"slug":85,"hasResults":11,"nctId":86,"briefTitle":87,"officialTitle":87,"acronym":4,"eligibilityCriteria":88,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":89,"targetDuration":91,"studyType":22,"phases":4,"briefSummary":92,"conditions":93,"keywords":98,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":100,"lastUpdatePostDateStruct":101,"startDateStruct":103,"completionDateStruct":105,"leadSponsor":107,"locationsCount":82},"100585126","utility-of-gene-test-analysis-for-diagnosis-prognosis-and-treatment-of-patients-with-genetic-arrhythmic-heart-disease-the-arrhythmic-gene-heart-100585126","NCT06898307","Utility of Gene Test Analysis for Diagnosis, Prognosis and Treatment of Patients With Genetic Arrhythmic Heart Disease: the ARRHYTHMIC GENE-HEART","Inclusion Criteria:\n\n* Patients evaluated at the Cardiogenetic Center of the University of Ferrara in Ferrara, Italy.\n* Having a proven cardiogenetic disease\n\nExclusion Criteria:\n\n* Refuse to provide informed consents\n* Patients not having a cardiogenic disease",{"count":90,"type":21},200,"10 Years","The goal of this observational study is to enroll all patients evaluated at the specialized Cardiogenetic Center within the Cardiology Department of the University of Ferrara, Italy. The primary aim of the registry is to collect comprehensive clinical, genetic, and electrophysiological data from individuals with suspected or confirmed arrhythmogenic conditions. By systematically documenting patient demographics, family history, clinical presentations, diagnostic findings, and treatment outcomes, the registry seeks to enhance our understanding of the genetic basis and clinical implications of genetically driven arrhythmias and systemic syndromes. This registry will facilitate long-term follow-up of enrolled patients to assess the natural history of arrhythmogenic disorders and the effectiveness of various therapeutic interventions. Additionally, it aims to identify potential risk factors associated with adverse outcomes, such as sudden cardiac death or major arrhythmic events.",[94,95,96,25,97],"Genetic Disease","Cardiac Disease","Cardiac Arrhythmias","Cardiology",[99],"Cardiogenetic","2025-03-26",{"date":102,"type":40},"2025-03-27",{"date":104,"type":40},"2017-11-01",{"date":106,"type":21},"2035-11-01",{"name":108,"class":81},"University Hospital of Ferrara",{"id":110,"slug":111,"hasResults":11,"nctId":112,"briefTitle":113,"officialTitle":113,"acronym":114,"eligibilityCriteria":115,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":116,"targetDuration":91,"studyType":22,"phases":4,"briefSummary":118,"conditions":119,"keywords":121,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":124,"lastUpdatePostDateStruct":125,"startDateStruct":127,"completionDateStruct":129,"leadSponsor":131,"locationsCount":82},"100543945","lipid-transport-disorder-italian-genetic-record-lipigen-100543945","NCT06362473","Lipid Transport Disorder Italian Genetic Record (LIPIGEN)","LIPIGEN","Inclusion Criteria:\n\n* Molecular or clinical diagnosis of genetic dyslipidemia\n* Informed consent signed\n\nExclusion Criteria:\n\n* None",{"count":117,"type":21},10000,"LIPIGEN is an observational study involving Italian physicians and researchers in the field of diseases related to blood lipid levels. This study aims to improve the diagnosis and treatment of people with familial dyslipidaemias, including very common conditions such as familial hypercholesterolaemia (FH) and less common ones such as familial chylomicronidaemic syndrome (FCS).\n\nWhat does the study do?\n\nIt collects information on Italian patients with Familial Hypercholesterolaemia (FH), following them in their normal clinical examination without adding extra procedures.\n\nIt uses the data collected to further our understanding of diseases such as familial hypercholesterolaemia, examining how it is diagnosed clinically and by genetic testing, and evaluating the effectiveness of different treatments.\n\nIt seeks to identify the genetic mutations that cause familial hypercholesterolaemia and other dyslipidaemias, helping to choose the most effective treatments.\n\nIt evaluates the impact of long-term treatments and patient adherence to medication, as well as monitoring the incidence of cardiovascular events and other important outcomes.\n\nWho can participate?\n\nThe study is aimed at people of all ages, from children to adults, with familial hypercholesterolaemia or other genetic dyslipidaemia.\n\nMore than 50 centres throughout Italy are involved, making the study accessible to many.\n\nWhat does participation entail?\n\nParticipants will continue with their normal clinical practice.\n\nData such as family history, personal clinical findings and genetic information will be collected, without additional procedures.\n\nFor some, further evaluations, such as ultrasounds, may be required to better study their condition.\n\nThe LIPIGEN study not only helps to better understand diseases related to high cholesterol but also aims to improve patients\\' lives through more precise diagnosis and personalised treatments.",[120,25],"Familial Hypercholesterolemia",[114,122,123],"Familial Hypercholesterelomia","Genetic Dyslipidemia","2024-04-08",{"date":126,"type":40},"2024-04-12",{"date":128,"type":40},"2015-08-04",{"date":130,"type":21},"2026-09-30",{"name":132,"class":81},"Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi)"]