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Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias

This study is enrolling participants by invitation only.
Information provided by (Responsible Party):
Gordon F. Tomaselli, Johns Hopkins University Identifier:
First received: April 6, 2015
Last updated: March 14, 2016
Last verified: March 2016
Human induced pluripotent stem cells (hiPSCs) have driven a paradigm shift in the modeling of human disease; the ability to reprogram patient-specific cells holds the promise of an enhanced understanding of disease mechanisms and phenotypic variability, with applications in personalized predictive pharmacology/toxicology, cell therapy and regenerative medicine. This research will collect blood or skin biopsies from patients and healthy controls for the purpose of generating cell and tissue models of Mendelian heritable forms of heart disease focusing on cardiomyopathies, channelopathies and neuromuscular diseases. Cardiomyocytes derived from hiPSCs will provide a ready source of disease specific cells to study pathogenesis and therapeutics.

Inherited Cardiac Arrythmias Long QT Syndrome (LQTS) Brugada Syndrome (BrS) Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Early Repolarization Syndrome (ERS) Arrhythmogenic Cardiomyopathy (AC, ARVD/C) Hypertrophic Cardiomyopathy (HCM) Dilated Cardiomyopathy (DCM) Muscular Dystrophies (Duchenne, Becker, Myotonic Dystrophy) Normal Control Subjects

Study Type: Observational [Patient Registry]
Study Design: Observational Model: Family-Based
Time Perspective: Prospective
Target Follow-Up Duration: 1 Day
Official Title: Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias (Long QT Syndrome, Brugada Syndrome, CPVT and Early Repolarization Syndrome)

Resource links provided by NLM:

Further study details as provided by Gordon F. Tomaselli, Johns Hopkins University:

Primary Outcome Measures:
  • •Production of cardiomyocytes and engineered tissues from hiPSC-derived cardiomyocytes to be used in mechanistic studies of disease and testing of therapeutic interventions. [ Time Frame: 10 years ]
    Whole Blood drawn on day of informed consent obtained.

Biospecimen Retention:   Samples With DNA
induced pluripotent stem cells (iPSC)

Estimated Enrollment: 100
Study Start Date: August 2013
Estimated Study Completion Date: August 2023
Estimated Primary Completion Date: August 2023 (Final data collection date for primary outcome measure)
Detailed Description:

Further study details as provided by Gordon F. Tomaselli, Johns Hopkins University:

Biospecimen Retention: Blood or tissue samples, hiPSCs and cardiomyocytes reprogrammed from hiPSCs Eligible patients will be approached and the study will be explained in full as a part of obtaining informed consent for the study. The subjects will have an opportunity to ask questions about the study. Control subjects, often but not exclusively family member that meet the eligibility criteria will undergo a similar procedure for informed consent. Subjects will be evaluated in clinic and will have a 1-3 mm skin biopsy or blood draw (30 cc). The subjects will be asked about their medical history during the clinic visit but this information will not be transmitted to the research laboratories where the iPSCs are generated and re-programmed, only the disease genotype will be associated with the samples. The samples that will be frozen and stored are whole blood, white blood cells, skin biopsies, hiPSCs and reprogrammed cardiomyocytes.


Ages Eligible for Study:   18 Years to 85 Years   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Participants who have a mutation causing ARVD/C or LQTS or a first degree family member with such a gene mutation. Participants, including patients with ARVD/C or LQTS and family members, who have previously been genotyped for clinically indicated reasons will be approached to join the study.

Inclusion Criteria:

  • All patients and family members 18 years of age or older with inherited cardiac arrhythmias including LQTS, Brugada Syndrome (BrS), cathecholaminergic polymorphic ventricular tachycardia (CPVT) or early repolarization syndrome (ERS) are eligible for enrollment.
  • All enrolled patients will have undergone clinically indicated genetic testing.

Exclusion Criteria:

  • Age <18 years
  • >85 years
  • pregnant women
  • life-limiting co-morbidities
  • immunocompromise
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT02413450

United States, Maryland
Johns Hopkins Medical Institute
Baltimore, Maryland, United States, 21287-9106
Sponsors and Collaborators
Johns Hopkins University
Principal Investigator: Gordon F Tomaselli, MD Johns Hopkins University
  More Information

Responsible Party: Gordon F. Tomaselli, Chief of Cardiology JHU, Johns Hopkins University Identifier: NCT02413450     History of Changes
Other Study ID Numbers: NA_00085175
Study First Received: April 6, 2015
Last Updated: March 14, 2016

Keywords provided by Gordon F. Tomaselli, Johns Hopkins University:
induced Pluripotent Stem Cells (iPSC)

Additional relevant MeSH terms:
Muscular Dystrophies
Myotonic Dystrophy
Myotonic Disorders
Tachycardia, Ventricular
Cardiomyopathy, Dilated
Cardiomyopathy, Hypertrophic
Arrhythmias, Cardiac
Long QT Syndrome
Brugada Syndrome
Pathologic Processes
Heart Diseases
Cardiovascular Diseases
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Pathological Conditions, Anatomical
Aortic Stenosis, Subvalvular
Aortic Valve Stenosis
Heart Valve Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases processed this record on July 27, 2017