[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"trial:NCT06644742":3,"trial-entities:NCT06644742":130,"trial-summary:NCT06644742":135},{"id":4,"nct_id":4,"org_study_id":5,"brief_title":6,"official_title":7,"overall_status":8,"completion_date":9,"status_verified_date":10,"last_update_date":11,"start_date":12,"sponsor_name":13,"lead_sponsor_class":14,"has_dmc":15,"brief_summary":16,"detailed_description":17,"conditions":18,"keywords":23,"study_type":28,"primary_purpose":29,"phases":30,"enrollment_info":31,"interventions":34,"primary_outcomes":35,"secondary_outcomes":43,"sex":63,"minimum_age":64,"maximum_age":29,"healthy_volunteers":65,"eligibility_criteria":66,"std_ages":70,"locations":74,"central_contacts":122,"overall_officials":127,"references":128,"see_also_links":129},"NCT06644742","RP-NI-A601-0124","PKP2-ACM Natural History Study","The Natural History of Arrhythmogenic Cardiomyopathy With Pathogenic Plakophilin-2 Variants (PKP2-ACM): An Observational Cohort Study","RECRUITING","2031-04","2026-02","2026-02-27","2026-03","Rocket Pharmaceuticals Inc.","INDUSTRY",true,"The goal of this study is to describe the natural history and clinical events for patients who have Arrhythmogenic Cardiomyopathy with Pathogenic Plakophilin-2 Variants (PKP2-ACM) managed with standard of care.","This is an observational study with both retrospective and prospective data collection. The study is designed to describe the natural history of PKP2-ACM including the signs and symptoms, key clinical events, and impact of the disease on quality of life. A hybrid (retrospective and prospective data collection) approach is being taken with the aim of achieving robust and longitudinal data generation.",[19,20,21,22],"Cardiomyopathies","Heart Diseases","Cardiovascular Diseases","Genetic Diseases",[24,25,26,27],"Arrhythmogenic Cardiomyopathy","Plakophilin-2","Arrhythmogenic Cardiomyopathy (AC, ARVD\u002FC)","PKP2","OBSERVATIONAL",null,[],{"count":32,"type":33},36,"ESTIMATED",[],[36,40],{"measure":37,"description":38,"timeFrame":39},"Heart rhythm and rate monitoring measures","Evaluate electrophysiology as assessed by heart rate and rhythm","36 months",{"measure":41,"description":42,"timeFrame":39},"Cardiac biomarkers","Evaluate heart health as assessed by cardiac biomarkers",[44,47,50,53,56,59],{"measure":45,"description":46,"timeFrame":39},"Characterize cardiovascular events","Evaluate cardiovascular health as assessed by the occurrence of clinical outcomes related to the cardiovascular system",{"measure":48,"description":49,"timeFrame":39},"Evaluate patient reported outcomes and quality of life measures","Evaluate patient reported outcomes and quality of life measures through questionnaires.",{"measure":51,"description":52,"timeFrame":39},"Interrogate ICDs","Evaluate heart health as assessed by interrogation of implanted cardioverter defibrillator",{"measure":54,"description":55,"timeFrame":39},"Evaluate changes in health status","Evaluate changes in health status as assessed by occurrence of clinical outcomes",{"measure":57,"description":58,"timeFrame":39},"Cardiac Structure and Performance","Evaluating heart changes through measures of cardiac structure and performance with echocardiogram.",{"measure":60,"description":61,"timeFrame":62},"Evaluate genetics","Assess association with cardiomyopathy as assessed by additional genetic testing.","Cross sectional","ALL","12 Years",false,{"inclusion":67,"exclusion":68,"raw_text":69},[],[],"Inclusion Criteria\n\nPatients must meet all the following criteria (and none of the exclusion criteria) to be eligible for study participation:\n\n1. Male or female age 12 years or older at the time of providing informed consent (i.e., ICF provision).\n2. Capable and willing to provide signed informed consent and\u002For assent, which includes compliance with the requirements and restrictions listed in the ICF and protocol.\n3. Clinical diagnosis of arrhythmogenic cardio myopathy (ACM)\n4. Documentation of a pathogenic or likely pathogenic variant in PKP2 by a CLIA-certified genetic testing laboratory\n5. History of ICD implantation ≥6 months prior to ICF provision\n6. Left ventricular ejection fraction by echocardiogram or cardiac magnetic resonance (CMR) ≥50% at ≤12 months prior to ICF provision\n\nExclusion Criteria\n\nPatients meeting any of the following criteria are excluded from study participation:\n\n1. Gene testing indicates that the subject's arrhythmia or cardiomyopathy may be related to a genetic etiology other than PKP2 truncating variant.\n2. Concurrent participation in any other clinical investigation involving use of an investigational agent that could confound results of this study.\n3. Previous participation in a study of gene transfer or gene editing.\n4. NYHA Class IV heart failure.\n5. Presence or requirement for mechanical circulatory support (MCS) or predicted need for MCS or heart transplantation within 6 months of enrollment.\n6. Prior cardiac or other organ (lung, liver, other) transplantation.\n7. Pacemaker dependent rhythm documented, as assessed by the principal investigator ≤12 months prior to enrollment.\n8. Positive human immunodeficiency virus (HIV) antibody test.\n9. Unwillingness to comply with study procedures, including follow-up as specified by this protocol, or unwillingness to fully cooperate with the investigator.",[71,72,73],"CHILD","ADULT","OLDER_ADULT",[75,92,106],{"facility":76,"status":8,"city":77,"state":78,"zip":79,"country":80,"contacts":81,"geoPoint":89},"Boston Children's Hospital","Boston","Massachusetts","02116","United States",[82,87],{"name":83,"role":84,"phone":85,"email":86},"Dominic Abrams, MD","CONTACT","617 355-6955","dominic.abrams@cardio.chboston.org",{"name":83,"role":88},"PRINCIPAL_INVESTIGATOR",{"lat":90,"lon":91},42.35843,-71.05977,{"facility":93,"status":8,"city":94,"state":95,"zip":96,"country":80,"contacts":97,"geoPoint":103},"Duke University","Durham","North Carolina","27710",[98,102],{"name":99,"role":84,"phone":100,"email":101},"James Daubert, MD","919-681-4294","james.daubert@duke.edu",{"name":99,"role":88},{"lat":104,"lon":105},35.99403,-78.89862,{"facility":107,"status":108,"city":109,"zip":110,"country":111,"contacts":112,"geoPoint":119},"Amsterdam UMC","NOT_YET_RECRUITING","Amsterdam","1105 AZ","Netherlands",[113,117],{"name":114,"role":84,"phone":115,"email":116},"Ahmed S Amin, MD","+31205663992","a.s.amin@amsterdamumc.nl",{"name":118,"role":88},"Ahmed Amin, MD",{"lat":120,"lon":121},52.37403,4.88969,[123],{"name":124,"role":84,"phone":125,"email":126},"Clinical Information","646-627-0033","clinicaltrials@rocketpharma.com",[],[],[],{"nct_id":4,"conditions":131,"biomarkers":133},[132],"Arrhythmic cardiomyopathy",[134],"PKP2 Gene",{"nct_id":4,"found":15,"summary":136,"prompt_version":29},{"design":137,"status":138,"heading":6,"summary":139,"follow_up":140,"word_count":141,"commitments":142,"compensation":143,"drugs_mentioned":144},"This is an observational study that will collect information from your past and also follow you over time. It aims to gather detailed information from 36 participants.","completed","This study aims to understand more about Arrhythmogenic Cardiomyopathy with Pathogenic Plakophilin-2 Variants (PKP2-ACM), a type of heart disease, in patients receiving standard care. Researchers will gather information on the signs, symptoms, and important health events related to this condition, as well as how it affects your quality of life. The study will look at your heart rhythm and rate, and certain heart markers (cardiac biomarkers) over 36 months to see how the disease progresses. You may be able to join if you are 12 years or older and have PKP2-ACM. The study plans to include 36 participants.","Your heart rhythm and rate, and cardiac biomarkers will be measured at 36 months.",98,"Not specified in the trial record.","Not stated in the trial record.",[]]