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

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ClinicalTrials.gov Identifier: NCT02413450
Recruitment Status : Enrolling by invitation
First Posted : April 10, 2015
Last Update Posted : January 11, 2022
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
Johns Hopkins University

Brief Summary:
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.

Condition or disease
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

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.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 100 participants
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)
Study Start Date : August 2013
Estimated Primary Completion Date : August 2025
Estimated Study Completion Date : August 2025

Primary Outcome Measures :
  1. •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)

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 85 Years   (Adult, Older Adult)
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02413450

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United States, Maryland
Johns Hopkins Medical Institute
Baltimore, Maryland, United States, 21287-9106
Sponsors and Collaborators
Johns Hopkins University
National Heart, Lung, and Blood Institute (NHLBI)
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Principal Investigator: Andreas Barth, MD Johns Hopkins University
Additional Information:

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Responsible Party: Johns Hopkins University
ClinicalTrials.gov Identifier: NCT02413450    
Other Study ID Numbers: NA_00085175
1R01HL128743-01A1 ( U.S. NIH Grant/Contract )
First Posted: April 10, 2015    Key Record Dates
Last Update Posted: January 11, 2022
Last Verified: January 2022
Keywords provided by Johns Hopkins University:
induced Pluripotent Stem Cells (iPSC)
Additional relevant MeSH terms:
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Muscular Dystrophies
Myotonic Dystrophy
Myotonic Disorders
Arrhythmias, Cardiac
Tachycardia, Ventricular
Cardiomyopathy, Hypertrophic
Cardiomyopathy, Dilated
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
Cardiac Conduction System Disease
Aortic Stenosis, Subvalvular
Aortic Valve Stenosis
Aortic Valve Disease
Heart Valve Diseases
Heredodegenerative Disorders, Nervous System