[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"danon-disease\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:danon-disease":24},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,43,75,112],{"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":25,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":31,"lastUpdatePostDateStruct":32,"startDateStruct":35,"completionDateStruct":37,"leadSponsor":39,"locationsCount":42},"100532569","danon-disease-natural-history-study-100532569",false,"NCT06214507","Danon Disease Natural History Study","An Observational Study of Genetic Cardiomyopathy, Danon Disease","Prospective Cohort:\n\n1. Documentation of a pathogenic or likely pathogenic variant of the LAMP2 gene by a CLIA-certified genetic testing laboratory\n2. Patient or parent\u002Flegal guardian are capable and willing to provide signed informed consent\n3. Age ≥ 8 years at enrollment\n\n   Female Prospective Cohort:\n4. Evidence of left ventricular hypertrophy in the 12 months prior to or at enrollment.\n\n   Retrospective (only) Cohort:\n5. Documentation of a pathogenic or likely pathogenic variant of the LAMP2 gene by a CLIA-certified genetic testing laboratory\n6. Patient or parent\u002Flegal guardian are capable and willing to provide signed informed consent, as required by local regulations\n7. Age ≥ 8 years at enrollment\n8. Prior cardiac transplantation or prior mechanical circulatory support\n9. At least 30 days of retrospective medical records available prior to cardiac transplantation or mechanical circulatory support\n\n   Female Retrospective (only) Cohort:\n10. Prior evidence of left ventricular hypertrophy.\n\nKey Exclusion Criteria:\n\nAll Cohorts:\n\n1. Concurrent enrollment in any other clinical investigation involving use of an investigational agent for any condition at time of enrollment to this study that could confound interpretation of this study\n2. Previous treatment with a gene therapy\n\n   Prospective Cohort:\n3. Prior mechanical circulatory support at time of enrollment to this study\n4. Prior cardiac transplantation at time of enrollment to this study\n\n   Female patients:\n5. Age \\>51 years at enrollment","ALL","8 Years",{"count":19,"type":20},60,"ESTIMATED","OBSERVATIONAL","The goal of this international observational study is to learn about the natural history of Danon disease in male patients (≥8 years of age) and female patients (8 to 50 years of age).",[24],"Danon Disease",[24,26,27,28,29],"LAMP2","Lysosome-associated membrane protein 2","Cardiomyopathy","X-linked","RECRUITING","2026-04-29",{"date":33,"type":34},"2026-05-05","ACTUAL",{"date":36,"type":34},"2023-12-20",{"date":38,"type":20},"2030-03",{"name":40,"class":41},"Rocket Pharmaceuticals Inc.","INDUSTRY",13,{"id":44,"slug":45,"hasResults":11,"nctId":46,"briefTitle":47,"officialTitle":48,"acronym":4,"eligibilityCriteria":49,"healthyVolunteers":11,"sex":50,"minAge":17,"maxAge":4,"enrollmentInfo":51,"targetDuration":4,"studyType":53,"phases":54,"briefSummary":56,"conditions":57,"keywords":58,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":66,"lastUpdatePostDateStruct":67,"startDateStruct":69,"completionDateStruct":71,"leadSponsor":73,"locationsCount":74},"100523162","phase-2-a-gene-therapy-study-of-rp-a501-in-male-patients-with-danon-disease-100523162","NCT06092034","A Gene Therapy Study of RP-A501 in Male Patients With Danon Disease","Gene Therapy for Danon Disease: A Phase 2 Study Evaluating the Efficacy and Safety of Intravenously Administered Adeno-Associated Virus Serotype 9 (rAAV9) Vector Containing the Human LAMP2 Isoform B Transgene (RP-A501; AAV9.LAMP2B) in Male Patients With Danon Disease","Key Inclusion Criteria:\n\n1. Documentation of a pathogenic or likely pathogenic variant of the LAMP2 gene.\n2. Male.\n3. Age ≥8 years.\n4. Evidence of left ventricular hypertrophy with preserved systolic function phenotype as defined by each of the following:\n\n   1. Abnormal thickening of Left ventricular wall,\n   2. Left ventricular ejection fraction (LVEF) ≥ 50%.\n5. New York Heart Association (NYHA) Class II to III.\n6. High sensitivity Troponin I (hsTnI) ≥20% above the upper limit of normal (ULN)\n7. Ability to comply with study procedures including investigational therapy and follow-up evaluations.\n\nKey Exclusion Criteria:\n\n1. Anti-AAV9 neutralizing antibody titer \\>1:40.\n2. Severe heart failure or requirement for advanced therapies.\n3. History of intracardiac thrombosis or arterial thromboembolic events including stroke, transient ischemic attack (TIA), acute coronary syndrome, myocardial infarction or unstable angina.\n4. Prior cardiac or other organ (lung, liver, other) transplantation.","MALE",{"count":52,"type":20},14,"INTERVENTIONAL",[55],"PHASE2","This is a single arm Phase 2 trial to evaluate the efficacy and safety of RP-A501, a recombinant adeno-associated virus serotype 9 (AAV9) containing the human lysosome-associated membrane protein 2 isoform B (LAMP2B) transgene, in male patients with Danon Disease.",[24],[59,60,61,26,62,63,28,64,65],"Hypertrophic Cardiomyopathy","HCM","X-linked disease","Pediatric","Skeletal Myopathies","Lysosomal Storage Disorder","Left Ventricular Hypertrophy","2026-04-28",{"date":68,"type":34},"2026-05-04",{"date":70,"type":34},"2023-09-05",{"date":72,"type":20},"2032-04",{"name":40,"class":41},6,{"id":76,"slug":77,"hasResults":11,"nctId":78,"briefTitle":79,"officialTitle":80,"acronym":4,"eligibilityCriteria":81,"healthyVolunteers":82,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":83,"targetDuration":85,"studyType":21,"phases":4,"briefSummary":86,"conditions":87,"keywords":94,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":101,"lastUpdatePostDateStruct":102,"startDateStruct":104,"completionDateStruct":106,"leadSponsor":108,"locationsCount":111},"100618805","precision-diagnosis-and-risk-stratification-of-rare-cardiomyopathies-based-on-novel-cardiac-magnetic-resonance-techniques-100618805","NCT07336394","Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Techniques","Multimodality Imaging (Cardiovascular Magnetic Resonance Imaging, Echocardiography, and Nuclear Medicine Imaging) in the Screening, Diagnosis and Risk Stratification of Rare Cardiomyopathies - a Multicenter Study","Inclusion Criteria:\n\n* Patients who have received a cardiac magnetic resonance examination since 2010 and have a suspicion of rare cardiomyopathy.\n\nExclusion Criteria:\n\n* Severe arrhythmia;\n* Severe primary cardiac valvular disease;\n* Refuse to participate in the study.",true,{"count":84,"type":20},1000,"10 Years","What is this study about? This research is focused on improving the care for people with rare heart muscle diseases, known as rare cardiomyopathies. These are uncommon conditions where the heart muscle becomes stiff, thick, or enlarged, making it harder for the heart to pump blood. Because they are rare, they can be difficult to diagnose and manage.\n\nThe investigators are testing new, advanced ways of using a heart scan called a Cardiac Magnetic Resonance (CMR). Participants can think of a CMR as a very powerful camera that takes detailed pictures of their heart without using radiation.\n\nWhat is the study trying to learn? Better Diagnosis: The investigators want to see if these new scanning techniques can help us identify these rare heart conditions more clearly and accurately. This means patients could get a correct diagnosis sooner.\n\nPersonalized Risk Assessment: The investigators want to see if the scan can help us understand the future risk for each patient better. For example, can it help predict which patients are more likely to have a heart rhythm problem or need specific treatments? This helps doctors create a care plan that is tailored just for participants.\n\nWhat does this mean for participants? If participants choose to take part, they will undergo a CMR scan that uses these new techniques. By participating, they will be helping us find better ways to diagnose and care for people with their condition in the future. The goal is to turn uncertainty into clearer, more personalized information for patients and families.",[24,88,89,90,91,92,93],"Fabry Disease","Cardiac Amyloidosis","Noonan Syndrome","Cardiac Sarcoidosis","Glycogen Storage Disease","Idiopathic Cardiomyopathy",[95,96,97,98,99,100],"cardiovascular magnetic resonance imaging","early diagnosis","prognosis","rare cardiomyopathies","nuclear medicine imaging","echocardiography","2026-01-19",{"date":103,"type":34},"2026-01-21",{"date":105,"type":34},"2010-01-01",{"date":107,"type":20},"2030-12-30",{"name":109,"class":110},"Chinese Academy of Medical Sciences, Fuwai Hospital","OTHER",1,{"id":113,"slug":114,"hasResults":11,"nctId":115,"briefTitle":116,"officialTitle":116,"acronym":4,"eligibilityCriteria":117,"healthyVolunteers":11,"sex":16,"minAge":118,"maxAge":119,"enrollmentInfo":120,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":122,"conditions":123,"keywords":137,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":143,"lastUpdatePostDateStruct":144,"startDateStruct":146,"completionDateStruct":148,"leadSponsor":150,"locationsCount":111},"100577196","rare-glycogen-storage-diseases-natural-history-study-100577196","NCT06795152","Rare Glycogen Storage Diseases Natural History Study","Inclusion Criteria:\n\n* Diagnosis of a rare GSD, including 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome or Danon disease\n\n  * Two variants in the gene associated with the specific GSD type (for autosomal recessive diseases)\n  * One variant in the gene associated with the specific GSD type (for autosomal dominant or X-linked diseases)\n  * Deficient enzyme activity in liver, muscle, skin fibroblast or other tissue\n  * One variant in causative gene with evidence of disease, per a clinician\n  * Histology as confirmed by a clinician\n* Able to provide informed consent for self (adults) or affected individual (minor or adults with a legally authorized representative)\n* Able to provide consent for release of medical records\n* Pregnant women with a diagnosis of a rare GSD will be included\n\nExclusion Criteria:\n\n* Unable to provide informed consent for participation for one's self or by legally authorized representative\u002Flegal guardian\u002Fparent","0 Years","90 Years",{"count":121,"type":20},200,"The purpose of this study is to collect and study key medical data about several ultra-rare GSDs (Glycogen Storage Diseases) including, but not limited to, GSD types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome and Danon disease.",[92,124,125,126,127,128,129,130,131,132,133,24,134,135,136],"GSD Type 0A","GSD Type 0B","GSD VII","Tarui Disease","GSD X","GSD XII","GSD XIII","GSD XV","PGBM2","PRKAG2","Polyglucosan Body Myopathy Type 1","Polyglucosan Body Myopathy Type 2","RBCK1 Deficiency",[138,139,140,135,132,133,141,134,142],"glycogen storage disease","GSD","Tarui disease","Danon disease","RBCK1","2026-01-05",{"date":145,"type":34},"2026-01-07",{"date":147,"type":34},"2024-12-23",{"date":149,"type":20},"2034-12",{"name":151,"class":110},"Duke University"]