[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"fabry-disease-cardiac-variant\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:fabry-disease-cardiac-variant":24},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,38,58],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":4,"overallStatus":25,"whyStopped":4,"lastUpdateSubmitDate":26,"lastUpdatePostDateStruct":27,"startDateStruct":30,"completionDateStruct":32,"leadSponsor":34,"locationsCount":37},"100555475","cvi-alterations-in-fd-a-prospective-multicenter-observational-cohort-study-100555475",false,"NCT06512571","CVI Alterations in FD: a Prospective, Multicenter, Observational Cohort Study","The Characteristics of Cardiovascular Imaging Alterations in Patients with Fabry Cardiomyopathy: a Prospective, Multicenter, Observational Cohort Study","Inclusion Criteria:\n\nPatients to be enrolled in this study should fulfill all 3 criteria (a, b, and c) at screening:\n\n1. Patients with a maximum myocardial wall thickness (left ventricular posterior wall or septum) of ≥13 mm at the end diastole on echocardiography;\n2. At least two or more \"warning signs\" associated with FD (\"warning signs\" include cardiac \"warning signs\", extracardiac \"warning signs\", or family history)\n3. Aged 18 years old or older;\n\ncardiac \"warning signs\" of FD:\n\nConcentric LVH or papillary hypertrophy or right ventricular hypertrophy on echocardiography\n\nECG abnormalities (eg, shortened PR interval, wide QRS complex, right bundle branch block, ST-segment depression, etc.)\n\nExtra-cardiac \"warning signs\" of FD\n\nAngiokeratomas\n\nAcroparesthesia\n\nHypohidrosis\n\nPremature stroke (\\\u003C50 years of age)\n\nCorneal verticillate\n\nRenal impairment accompanied by proteinuria\n\nHearing loss\n\nFamily history\n\nFamily history of X-linked inherited disorder (renal disease or cardiac disease)\n\nExclusion Criteria:\n\n1. LVH patients with a clear etiology;\n2. Combining any other clinical condition with a life expectancy less than 1 year;\n3. Refuse to give informed consent or refuse to be followed-up.","ALL","18 Years",{"count":19,"type":20},300,"ESTIMATED","OBSERVATIONAL","Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by α-galactosidase A (GLA) gene mutations leading to reduced or undetectable α galactosidase A (α-Gal A) enzyme activity, resulting in progressive accumulation of globotriaosylceramide (GL3) and its deacylated form globotriaosylsphingosine (Lyso-GL-3) in multiple organs, causing neural, renal, cardiac, dermatological, gastrointestinal and ophthalmic manifestations, even leading to life-threatening complications. Cardiovascular and cerebrovascular complications (i.e. heart failure, stroke, etc.) or end-stage renal disease even premature death can be seen in severe cases. The life expectancy of male patients is reduced by 15\\~20 years, while that of female patients is reduced by 6\\~10 years.\n\nThe exact prevalence of FD is currently unknown. Based on an estimated prevalence of 1:60,000, there are approximately 23,000 affected FD patients in China. The clinical manifestations of FD are diverse and non-specific, which may lead to misdiagnosis in patients with non-typical clinical manifestations in the absence of a family history of FD. Cardiac involvement can be recognized in up to 68% patients with FD, significantly higher than in other organs, and the positive screening rate for FD in adults with unexplained left ventricular hypertrophy (LVH)\u002Fhypertrophic cardiomyopathy was 0.9%.\n\nCardiovascular disease is the leading cause of death in patients with FD cardiomyopathy (40.2%). The 2020 Expert Consensus Document on the Management of Cardiovascular Manifestations of Fabry Disease recommends early screening in patients with suspected LVH for early diagnosis. Therefore, strengthened screening strategy in high-risk patients with LVH will improve the diagnosis and treatment of FD in China.",[24],"Fabry Disease, Cardiac Variant","RECRUITING","2025-03-23",{"date":28,"type":29},"2025-03-26","ACTUAL",{"date":31,"type":29},"2024-12-31",{"date":33,"type":20},"2026-12-30",{"name":35,"class":36},"China National Center for Cardiovascular Diseases","OTHER_GOV",1,{"id":39,"slug":40,"hasResults":11,"nctId":41,"briefTitle":42,"officialTitle":42,"acronym":4,"eligibilityCriteria":43,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":44,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":46,"conditions":47,"keywords":4,"overallStatus":25,"whyStopped":4,"lastUpdateSubmitDate":48,"lastUpdatePostDateStruct":49,"startDateStruct":51,"completionDateStruct":53,"leadSponsor":55,"locationsCount":37},"100533528","molecular-imaging-in-fabry-disease-of-the-heart-100533528","NCT06226987","Molecular Imaging in Fabry Disease of the Heart","Inclusion Criteria:\n\n* Male or female participants \\>18 years old\n* Able to give written, informed consent and to lie flat\n* Have Fabry disease based on molecular diagnosis (at a minimum, documented enzyme deficiency in males and documented pathogenic mutation in females)\n* Cardiac MRI within 3 years documenting cardiac involvement in Fabry disease (left ventricular hypertrophy and\u002For late gadolinium enhancement and\u002For myocardial oedema)\n\nExclusion Criteria:\n\n* Any other diagnosis associated with cardiac muscle inflammation, including myocarditis\n* Previous gene therapy\n* Contra-indication to MRI scanning or intravenous gadolinium contrast (prior contrast reaction or chronic kidney disease with eGFR \\\u003C30 mL\u002Fmin\u002F1.73 m2)\n* Women of child bearing potential not using adequate contraception\n* Uncontrolled atrial fibrillation\n* Any medical condition, in the opinion of the investigator, that prevents the participant from lying flat during scanning, or from participating in the study",{"count":45,"type":20},12,"Better methods for early detection of cardiac involvement in Fabry disease are needed to inform clinical management decisions that can help prevent or slow the progression of cardiac complications. In the Molecular Imaging of Inflammation in Fabry Disease of the Heart study, the investigators will test the use of 68Ga-DOTATATE PET\u002FMRI for identifying myocardial inflammation in patients with Fabry disease.",[24],"2024-07-18",{"date":50,"type":29},"2024-07-22",{"date":52,"type":29},"2024-01-02",{"date":54,"type":20},"2026-01-02",{"name":56,"class":57},"University of Cambridge","OTHER",{"id":59,"slug":60,"hasResults":11,"nctId":61,"briefTitle":62,"officialTitle":63,"acronym":64,"eligibilityCriteria":65,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":66,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":68,"conditions":69,"keywords":73,"overallStatus":25,"whyStopped":4,"lastUpdateSubmitDate":79,"lastUpdatePostDateStruct":80,"startDateStruct":82,"completionDateStruct":84,"leadSponsor":86,"locationsCount":37},"100313569","evaluation-of-heart-involvement-in-patients-with-fabry-disease-100313569","NCT03362164","Evaluation of HEArt invoLvement in Patients With FABRY Disease","Prospective Monocentric Cohort Study to Evaluate Predictors for Heart Failure and Sudden Cardiac Death in Patients With Fabry Disease","HEAL-FABRY","Inclusion Criteria:\n\n* Fabry disease (genetically confirmed)\n* Signed informed consent\n* 18 years and older\n\nExclusion Criteria:\n\n* No informed consent\n* Withdrawal of informed consent",{"count":67,"type":20},650,"This study evaluates predictors for the incidence of arrhythmias and sudden cardiac death as well as terminal heart failure in patients with Fabry disease.",[70,71,24,72],"Rare Diseases","Fabry Disease","Hypertrophic Cardiomyopathy",[74,75,76,77,78],"Fabry","Fibrosis","Dialysis","Stroke","Chronic kidney disease","2022-07-06",{"date":81,"type":29},"2022-07-07",{"date":83,"type":29},"2001-01",{"date":85,"type":20},"2032-03",{"name":87,"class":57},"Wuerzburg University Hospital"]