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

Hypertrophic Cardiomyopathy (HCM) Clinical Trial

Official title:

Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias (Long QT Syndrome, Brugada Syndrome, CPVT and Early Repolarization Syndrome)

Clinical Trial Details — Status: Enrolling by invitation

Administrative data

• NCT number: NCT02413450
• Other study ID #: NA_00085175
• Secondary ID: 1R01HL128743-01A
• Status: Enrolling by invitation
• Start date: August 2013
• Est. completion date: August 2029

Study information

• Verified date: January 2024
• Source: Johns Hopkins University
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Enrolling by invitation
• Enrollment: 100
• Est. completion date: August 2029
• Est. primary completion date: August 2028
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years to 85 Years

Eligibility

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

Related Conditions & MeSH terms

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

Locations

Country	Name	City	State
United States	Johns Hopkins Medical Institute	Baltimore	Maryland

Sponsors (2)

Lead Sponsor	Collaborator
Johns Hopkins University	National Heart, Lung, and Blood Institute (NHLBI)

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	•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