What this study is
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.
Study details
- Official title
- Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias (Long QT Syndrome, Brugada Syndrome, CPVT and Early Repolarization Syndrome)
- Sponsor
- Johns Hopkins University
- Conditions
- 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
- Enrolling
- 100 people
- Starts
- 2013-08
- Est. completion
- 2031-08
- Record
- View on ClinicalTrials.gov ↗
Who can join
Age 18 Years – 85 YearsSex ALLHealthy volunteers AcceptedYou may qualify if
- 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.
You can't join if
- Age <18 years
- >85 years
- Pregnant women
- Life-limiting co-morbidities
- Immunocompromise
Sign in and we'll check these against your records.Full criteria on ClinicalTrials.gov ↗
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Study locations (1)
1 openJohns Hopkins Medical Institute
Baltimore, Maryland, United States
Study team
Sponsor
Johns Hopkins University
Study ID NA_00085175
Principal investigator
Andreas Barth, MD
Johns Hopkins University
Frequently asked questions
The sponsor hasn't published answers to common questions for this trial.