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

NCT02413450 | Enrolling By Invitation

• 2 other identifiers: NA_000851751R01HL128743-01A1
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Keywords

induced Pluripotent Stem Cells (iPSC); Channelopathies; Catecholaminergic; Arrhythmogenic

Outcome Measures

Primary Outcomes (1)

• •Production of cardiomyocytes and engineered tissues from hiPSC-derived cardiomyocytes to be used in mechanistic studies of disease and testing of therapeutic interventions.

  Whole Blood drawn on day of informed consent obtained.

  10 years

Eligibility Criteria

• Age: 18 Years - 85 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You 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 may not qualify if:

• Age \<18 years
• \>85 years
• pregnant women
• life-limiting co-morbidities
• immunocompromise

Sponsors & Collaborators

• Johns Hopkins University: lead
• National Heart, Lung, and Blood Institute (NHLBI): collaborator

Study Sites (1)

Johns Hopkins Medical Institute

Baltimore, Maryland, 21287-9106, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

induced pluripotent stem cells (iPSC)

MeSH Terms

Conditions

Long QT Syndrome; Brugada Syndrome; Polymorphic Catecholaminergic Ventricular Tachycardia; Arrhythmogenic Right Ventricular Dysplasia; Cardiomyopathy, Hypertrophic; Cardiomyopathy, Dilated; Muscular Dystrophies; Muscular Dystrophy, Duchenne; Myotonic Dystrophy; Channelopathies

Condition Hierarchy (Ancestors)

Arrhythmias, Cardiac; Heart Diseases; Cardiovascular Diseases; Cardiac Conduction System Disease; Heart Defects, Congenital; Cardiovascular Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Genetic Diseases, Inborn; Tachycardia, Ventricular; Tachycardia; Cardiomyopathies; Aortic Stenosis, Subvalvular; Aortic Valve Stenosis; Aortic Valve Disease; Heart Valve Diseases; Cardiomegaly; Laminopathies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, X-Linked; Myotonic Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases

Study Officials

• Andreas Barth, MD

  Johns Hopkins University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Target Duration: 1 Day
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 6, 2015
• First Posted: April 10, 2015
• Study Start: August 1, 2013
• Primary Completion (Estimated): August 1, 2030
• Study Completion (Estimated): August 1, 2031
• Last Updated: January 16, 2026

Record last verified: 2026-01

Locations

US (1)