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Clinical Studies


  • A Phase II, Double-Blind 2-arm study to investigate the effect on ventricular ectopy, safety, tolerability and pharmacokinetics of S48168 (ARM210) compared with Placebo in adults with Type 1 Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT1) Rochester, Minn.

    The purpose of this study is to measure the effect on ventricular ectopy, safety, tolerability and pharmacokinetics of S48168 (ARM210) compared with placebo in participants with Type 1 Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT1).

  • Genotype-Phenotype Correlations of Arrhythmogenic Bi-leaflet Mitral Prolapse Rochester, Minn.

    The purpose of this study is to elucidate the genetic basis of aBiMVP in hopes of determining novel mechanisms that underlie aBiMVP pathogenesis.

  • Measuring the QTc with the AliveCor Device Rochester, Minn.

    The purpose of this study is to assess the feasibility of using the current FDA-approved AliveCor Kardia device and their AliveCor Tripod device (FDA Approval pending) to measure the QT/QTc in patients presenting to the Genetic Heart Rhythm Clinic.

  • Molecular and Functional Basis of Human Cardiac Ion Channelopathies: Genomic Evaluation of At-Risk Syndrome – Long QT Syndrome, Brugada Syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia, Idiopathic Ventricular Fibrillation, Drug-Induced Torsades de Pointes/Cardiac Arrest, Sudden Unexplained Death Syndrome, Sudden Infant Death Syndrome, and Unexplained Drownings Rochester, Minn.

    This study is being done to identify underlying genetic defects in individuals from families who are at-risk of a possible cardiac channelopathy (abnormal electrical signals in the heart).

  • Molecular and Functional Basis of Human Nerve Ion Channelopathies: Genomic Analysis of Patients and Family Members with Resistance to Local Anesthetics Rochester, Minn.

    The purpose of this study is to:

    1. To describe the clinical presentation of patients with resistance to local anesthetics.

    2. To consent subject for a blood draw and send the sample to local BAP core facility for DNA isolation.

    3. To send the DNA sample to the Sequencing Core at Mayo Rochester to sequence the participants’ exome including the sodium channel genes.

    4. Analyze the patient’s and family members’ whole exome sequence to identify novel mutations associated with the patient’s clinical presentation.

  • Patient-Specific Induced Pluripotent Stem Cell Models for Heritable Channelopathies and Cardiomyopathies Rochester, Minn.

    The purpose of this study is to derive and characterize patient-specific disease models for sudden death-predisposing heritable channelopathies and cardiomyopathies using iPS-cell technology.  It is hoped that the molecular, cellular, and electrophysiological phenotypes of these in-vitro disease models will further elucidate the pathophysiologic mechanisms underlying these sudden death-associated conditions.

  • Prospective Identification of Long QT Syndrome in Fetal Life (Fetal LQTS) Rochester, Minn.

    The postnatal diagnosis of Long QT Syndrome (LQTS) is suggested by a prolonged QT interval on 12 lead electrocardiogram (ECG),a positive family history and/or characteristic arrhythmias and confirmed by genetic testing.  LQTS testing cannot be performed successfully before birth as   fetal ECG is not possible and direct measure of the fetal QT interval by magnetocardiography is limited. Genetic testing can be performed in utero, but there is risk to the pregnancy and the fetus. Although some fetuses present with arrhythmias easily recognized as LQTS (torsade des pointes (TdP) and/or 2° atrioventricular (AV) block, this is uncommon, occurring in <25% of fetal LQTS cases. Rather, the most common presentation of fetal LQTS is sinus bradycardia, a subtle rhythm disturbance that often is unappreciated to be abnormal. Consequently, the majority of LQTS cases are unsuspected and undiagnosed during fetal life, with dire consequences. For example, maternal medications commonly used during pregnancy can prolong the fetal QT interval and may provoke lethal fetal ventricular arrhythmias. But the most significant consequence is the missed opportunity for primary prevention of life threatening ventricular arrhythmias after birth because the infant is not suspected to have LQTS before birth. The over-arching goal of the study is to overcome the barriers to prenatal detection of LQTS. The investigators plan to do so by developing an algorithm using fetal heart rate (FHR) which will discriminate fetuses with or without LQTS. Immediate Goal: The investigators propose a multicenter pre-birth observational cohort study to develop a Fetal Heart Rate (FHR)/Gestational Age (GA) algorithm from a cohort of fetuses recruited from 13 national and international centers where one parent is known by prior genetic testing to have a mutation in one of the common LQTS genes: potassium voltage-gated channel subfamily Q member 1 (KCNQ1), potassium voltage-gated channel subfamily H member 2 (KCNH2), or sodium voltage-gated channel alpha subunit 5 (SCN5A). The investigators have chosen this population because 1) These mutations are the most common genetic causes of LQTS, and 2) Offspring will have high risk of LQTS as inheritance of these LQTS gene mutations is autosomal dominant. Thus, progeny of parents with a known mutation are at high (50%) risk of having the same parental LQTS mutation. The algorithm will be developed using FHR measured serially throughout pregnancy. All offspring will undergo postnatal genetic testing for the parental mutation as the gold standard for diagnosing the presence or absence of LQTS.

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  • Analysis of Outcomes of Left Cardiac Sympathetic Denervation in Arrhythmia Syndromes and Cardiomyopathies Rochester, Minn.

    The purpose of this study is to collect and review the Mayo Clinic experience with left cardiac sympathetic denervation (LCSD) in patients with heritable arrhythmias syndromes or refractory ventricular arrhythmias beginning in 2000.

  • ICD Therapy in Catecholaminergic Polymorphic Ventricular Tachycardia Rochester, Minn.

    The purpose of this study is to compare the rate of arrhythmia-induced events between paediatric Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) patients with and without implantable cardioverter defibrillator (ICDs), and to determine the quality of life and psychosocial functioning of paediatric CPVT patients with and without ICDs.

  • International Triadin Knockout Syndrome Registry Rochester, Minn.

    The aim of this study is to determine the worldwide prevalence of Triadin Knockout Syndrome (TKOS), and to better define the phenotype of patients with the disease. This information will provide additional insight into which phenotypic markers may be specific to TKOS, and will also help to develop better TKOS specific treatment strategies.

Closed for Enrollment