[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"anderson-fabry-disease\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:anderson-fabry-disease":24},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,42,68,101],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":25,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":30,"lastUpdatePostDateStruct":31,"startDateStruct":34,"completionDateStruct":36,"leadSponsor":38,"locationsCount":41},"100584055","functional-capacity-in-anderson-fabry-disease-patients-100584055",false,"NCT06884358","Functional Capacity in Anderson-Fabry Disease Patients","FunctiOnal caPaciTy Evaluation Using cardIopulMonary Testing and Stress echocArdiography in Anderson-Fabry Disease Patients: OPTIMA-FD Study","OPTIMA-FD","Inclusion Criteria:\n\n* Patients with a genetic diagnosis of AFD, according to current guidelines;\n* Informed written consent with the understanding that consent may be withdrawn by the patient at any time without prejudice to future medical care (for patients age \\\u003C18 years old, written consent from a caregiver is mandatory).\n\nExclusion Criteria:\n\n* eGFR \\\u003C30 ml\u002Fmin and other contraindications for CMR (relative controindication: patients with implantable device);\n* Musculoskeletal limitation for exercise test on the cyclo ergometer;\n* Pregnant or breastfeeding women;\n* Any serious medical or psychiatric illness that could, in the investigator's opinion, potentially interfere with a full comprehension of the written consent form.","ALL",{"count":19,"type":20},100,"ESTIMATED","OBSERVATIONAL","The goal of this observational study is to observe the relation between excercise parameters - assessed by CPET - and rest\u002Fstress hemodynamic parameters - assessed by echocardiogram and CMR - in patients with a genetic diagnosis of Anderson-Fabry Disease.\n\nParticipants will undergo:\n\n* baseline evaluation: clinical evaluation, disease staging with FASTEX and MSSI, KCCQ for quality of life assessment, resting 12-leads ECG, 6MWT, CPET-ESE and contrast-enhanced CMR;\n* before 36 months from baseline: resting 12-leads ECG, 2D rest and stress echocardiogram, CPET-ESE, contrast-enhanced CMR, disease staging with FASTEX and MSSI and KCCQ for quality of life assessment;\n* up to 7 years from baseline: clinical follow-up.",[24],"Anderson-Fabry Disease",[24,26,27,28],"Cardiac Involvement","CMR","CPET","RECRUITING","2026-07-01",{"date":32,"type":33},"2026-07-02","ACTUAL",{"date":35,"type":33},"2024-11-13",{"date":37,"type":20},"2032-01",{"name":39,"class":40},"IRCCS Policlinico S. Donato","OTHER",5,{"id":43,"slug":44,"hasResults":11,"nctId":45,"briefTitle":46,"officialTitle":46,"acronym":47,"eligibilityCriteria":48,"healthyVolunteers":11,"sex":17,"minAge":49,"maxAge":4,"enrollmentInfo":50,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":52,"conditions":53,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":58,"lastUpdatePostDateStruct":59,"startDateStruct":61,"completionDateStruct":63,"leadSponsor":65,"locationsCount":67},"100622323","myocardial-perfusion-cmr-for-differentiating-and-characterizing-hypertrophic-cardiomyopathy-phenotypes-100622323","NCT07382128","Myocardial Perfusion CMR for Differentiating and Characterizing Hypertrophic Cardiomyopathy Phenotypes","MyoPerf-HCM","Inclusion Criteria:\n\n* A confirmed diagnosis of cardiomyopathy with a hypertrophic phenotype, according to current ESC guidelines; or a first-degree relative of a patient with a confirmed diagnosis of cardiomyopathy with a hypertrophic phenotype; or a carrier of a genetic mutation for hypertrophic cardiomyopathy (carriers).\n* Patient with an indication to undergo cardiac magnetic resonance imaging (CMR) according to current ESC guidelines.\n* Age ≥ 18 years\n* Written informed consent obtained\n\nExclusion Criteria:\n\n\\- History of previous myocardial infarction or myocardial revascularization (coronary artery bypass grafting or percutaneous coronary angioplasty) and\u002For evidence of coronary stenosis ≥ 50% on coronary CT scan or invasive coronary angiography.","18 Years",{"count":51,"type":20},250,"This observational study aims to evaluate myocardial perfusion abnormalities using quantitative and qualitative cardiac magnetic resonance (CMR) perfusion imaging in patients with hypertrophic cardiomyopathy (HCM) phenotypes, including sarcomeric and non-sarcomeric HCM, Anderson-Fabry disease (AFD), and cardiac amyloidosis. The study will also include first-degree relatives of affected patients and genetic mutation carriers. By comparing myocardial blood flow and perfusion patterns across these different conditions, the study seeks to identify distinctive perfusion signatures that may improve diagnostic differentiation, support risk stratification, and provide insights into the role of ischemia in fibrosis progression, arrhythmias, and long-term outcomes.",[54,55,56,57],"HCM - Hypertrophic Cardiomyopathy","Anderson Fabry Disease","Cardiac Magnetic Resonance Imaging","Amyloid Cardiomyopathy","2026-01-26",{"date":60,"type":33},"2026-02-02",{"date":62,"type":33},"2025-06-01",{"date":64,"type":20},"2027-06-01",{"name":66,"class":40},"IRCCS Azienda Ospedaliero-Universitaria di Bologna",1,{"id":69,"slug":70,"hasResults":11,"nctId":71,"briefTitle":72,"officialTitle":73,"acronym":4,"eligibilityCriteria":74,"healthyVolunteers":11,"sex":17,"minAge":49,"maxAge":4,"enrollmentInfo":75,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":77,"conditions":78,"keywords":88,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":92,"lastUpdatePostDateStruct":93,"startDateStruct":95,"completionDateStruct":97,"leadSponsor":99,"locationsCount":67},"100562965","cardiovascular-multimodality-imaging-study-100562965","NCT06610019","Cardiovascular Multimodality Imaging Study","Risk Stratification of Ischemic and Non-ischemic Cardiomyopathies in Racial and Ethnic Minority Groups in the Bronx - Cardiovascular Multimodality Imaging Study","Inclusion Criteria:\n\n* Any adult patient (18 years or older) referred for a cardiovascular magnetic resonance (CMR) imaging study in the Montefiore Health System\n\nExclusion Criteria:\n\n* Any patient who does not meet above criteria",{"count":76,"type":20},5000,"Determining the etiology of cardiomyopathy is of high clinical importance for optimal treatment strategy and prediction of prognosis. There is increased risk for cardiovascular disease and higher propensity for cardiovascular related mortality among Black and non-Hispanic White patients. Recently, advanced cardiac imaging has become a vital tool in diagnosis and risk stratification of cardiovascular disease. Very limited data is available on the prevalence and characteristics of different cardiovascular diseases in Hispanic and African American minority groups, therefore, studying different racial and ethnic minority groups in the Bronx population is an exceptionally valuable source to determine the prevalence of cardiomyopathies among minority groups along with study survival in this population. This study aims to determine the etiology of cardiovascular disease in a diverse patient population by utilizing various cardiovascular imaging modalities, with a focus on cardiac magnetic resonance (CMR) imaging and to develop risk stratification models by applying advanced cardiovascular imaging markers.",[79,80,81,82,83,55,84,85,86,87],"Non-ischemic Cardiomyopathy","Cardiomyopathies","Hypertrophic Cardiomyopathy","Right Ventricular Arrhythmogenic Cardiomyopathy","Cardiac Amyloidosis","Sarcoidosis","Cancer Therapy-related Cardiac Dysfunction","Ventricular Arrythmia","Heart Failure",[89,90,91],"Cardiovascular Mortalities","Cardiomagnetic Resonance (CMR) Imaging","Prospective","2025-02-12",{"date":94,"type":33},"2025-02-14",{"date":96,"type":33},"2023-05-01",{"date":98,"type":20},"2031-12",{"name":100,"class":40},"Montefiore Medical Center",{"id":102,"slug":103,"hasResults":11,"nctId":104,"briefTitle":105,"officialTitle":105,"acronym":106,"eligibilityCriteria":107,"healthyVolunteers":11,"sex":17,"minAge":49,"maxAge":4,"enrollmentInfo":108,"targetDuration":110,"studyType":21,"phases":4,"briefSummary":111,"conditions":112,"keywords":126,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":164,"lastUpdatePostDateStruct":165,"startDateStruct":167,"completionDateStruct":169,"leadSponsor":171,"locationsCount":67},"100562769","multimodal-and-multidisciplinary-approach-to-optimize-diagnostic-prognostic-and-therapeutic-management-of-patients-with-non-ischemic-cardiomyopathies-and-arrhythmogenic-inflammatory-phenotypes-a-multicenter-observational-retrospective-and-prospective-registry-study-100562769","NCT06607471","Multimodal and Multidisciplinary Approach to Optimize Diagnostic, Prognostic, and Therapeutic Management of Patients with Non-ischemic Cardiomyopathies and Arrhythmogenic-inflammatory Phenotypes: a Multicenter, Observational, Retrospective and Prospective Registry Study.","AINICM","Inclusion Criteria:\n\n* Written informed consent. For pediatric patients, consent will be obtained by parents, according to the laws applicable in each of the participating countries.\n* Clinical suspicion of NICM, and\u002For proven diagnosis of any NICM and\u002For genotype consistent with any NICM.\n\nNICMs will include but not limit to: DCM, HCM, RCM, ACM, inflammatory, infiltrative, dysmetabolic, mitochondrial, toxic, neuromuscular, rheumatologic\u002Fautoimmune cardiomyopathies, channelopathies with structural substrates, LVNC, PPCM, AMVP, AFD, athlete's heart, undefined and overlap cardiomyopathies. Additional diseases of the NICM spectrum will be included in parallel with the advance of the current knowledge.\n\nExclusion Criteria:\n\n* Absent informed consent.\n* Proven diagnosis of cardiac disease alternative to NICM.\n* Lack of diagnostic workup suitable for diagnosing NICM, detecting arrhythmias, or detecting M-Infl.\n* For patients retrospectively enrolled: lack of active status of follow-up at the enrolling center.",{"count":109,"type":20},15000,"30 Years","Non-ischemic cardiomyopathies (NICM) represent a heterogeneous group of pathologies characterized by absence of obstructive disease of the epicardial coronary vessels and distinct structural and functional changes of the myocardium. The main identified forms include dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), and arrhythmogenic cardiomyopathy proper (ACM). More recently, further forms of cardiomyopathy have been described, less common and not uniquely classifiable, including: uncompressed myocardium (LVNC), peripartum cardiomyopathy (PPCM), structural correlates of arrhythmogenic mitral valve prolapse (AMVP), Anderson-Fabry disease (AFD), NICM associated with multi- system neuromuscular or autoimmune diseases, lysosomal diseases, glycogenosis, mitochondrial cytopathies and canal diseases with structural substrates. Finally, there are \"overlap\" forms, characterized by the sharing in the same subject of characteristic aspects of two or more of the above- mentioned diseases; and of the \"undefined\" forms, which to date do not reach the diagnostic criteria for any of the above-mentioned diseases.\n\nTo the best of current knowledge, there are two points discovered in scientific research, namely the description of the arrhythmogenic and \"inflammatory\" phenotypes in a broad sense, which are summarized here with the acronym AINICM. In detail:\n\n1. Arrhythmic manifestations account for the arrhythmogenic component of AINICM, which is not limited to ACM proper. In fact, most of the above diseases have a non-arrhythmic clinical presentation and a prevailing tendency to evolve towards a picture of cardiovascular decompensation. Although sudden arrhythmic death has been described throughout the spectrum of AINICM, early arrhythmic manifestations of such diseases have an unknown prevalence, an uncertain association with different disease genotypes and phenotypes, and still uncertain predictivity of long-term arrhythmic risk. At the same time, optimal diagnostic and therapeutic pathways in arrhythmias associated with AINICM are still being studied.\n2. Myocardial inflammation (M-Infl) accounts for the inflammatory component of AINICM, and has recently been described in association with many AINICM on a genetic basis, including undefined and arrhythmic forms. The data is of high interest not only in the diagnostic, but also in prognostic and therapeutic field. In fact, on the one hand the presence of M-Infl seems to have a physio- pathological role in AINICM; on the other, as already known in myocarditis, the optimal therapeutic paths of arrhythmias may differ in patients with and without M-Infl; in particular, also in the light of the preliminary data available in adult and paediatric AINICM, the inflammatory forms are expected to respond better to immunosuppressive therapy, the arrhythmogenic ones to an ablative therapy with frequent need of implantation of cardiac devices.\n\nBased on the clinical presentation, NICM patients will be divided into arrhythmic (AINICM) and non-arrhythmic patients as study and control groups , respectively. The AINICM group will include presentation with ventricular fibrillation (VF), either sustained or non-sustained ventricular tachycardia (VT; NSVT), frequent premature ventricular complexes (PVC), supraventricular arrhythmias (SVA) and bradyarrhythmias (BA). Clinical presentations other than arrhythmic, including chest pain and heart failure, will define the control group. In parallel, as shown in Figure 1, patients with any evidence of M-Infl will be compared with those showing no signs of M-Infl.",[79,113,114,115,116,117,118,119,24,120,121,122,123,124,125],"Dilated Cardiomyopathy (DCM)","Hypertrophic Cardiomyopathy (HCM)","Restrictive Cardiomyopathy","Arrhythmogenic Cardiomyopathy (AC, ARVD\u002FC)","Left Ventricular Noncompaction","Arrhythmogenic Mitral Valve Prolapse","Peripartum Cardiomyopathy","Arrhythmic and Inflammatory Non-ischemic Cardiomyopathy","Inflammatory (Non-Arrhythmic) Non-ischemic Cardiomyopathy","Nonischemic Cardiomyopathy Sensu Strictu (Non-inflammatory, Non-arrhythmic)","Major Ventricular Arrhythmias, I.e. Sustained Ventricular Tachycardia, Ventricular Fibrillation, or Appropriate Therapy of Cardiac Device (defibrillators)","Overlapping Phenotype","Undefined Phenotypes",[127,128,129,130,131,132,133,134,135,136,137,138,139,140,141,142,143,144,145,146,147,148,149,150,151,152,153,154,155,156,157,158,159,160,161,162,163],"Arrhythmogenic cardiomyopathy","Adverse event","Anderson-Fabry disease","Arrhythmic and Inflammatory Non-ischemic cardiomyopathy","Arrhythmogenic mitral valve prolapse","Anti tachycardia pacing","Bradiarrhythmias","Cardiac magnetic resonance","Cardiac resynchronization therapy with defibrillator","Computed tomography","Development Safety Update Report","Ethics Committee","Electroanatomical map","Electrocardiogram","Endomyocardial biopsy","Good Clinical Practice","Hypertrophic cardiomyopathy","Implantable cardioverter defibrillator","Informed Consent Form","International Conference on Harmonization","Immunomodulatory therapy","Late gadolinium enhancement","Left ventricular ejection fraction","Left ventricular noncompaction","Last Visit of Last Subject","Myocardial inflammation","Non-ischemic cardiomyopathies","Positron emission tomography","Pacemaker","Peripartum cardiomyopathy","Premature ventricular complexes","Serious Adverse Event","Supraventricular arrhythmias","Ventricular arrhythmias","Ventricular fibrillation","Ventricular tachycardia (sustained)","sudden cardiac death","2024-09-18",{"date":166,"type":33},"2024-09-23",{"date":168,"type":33},"2018-01-30",{"date":170,"type":20},"2035-12-31",{"name":172,"class":40},"Scientific Institute San Raffaele"]