An observational study in Inherited Cardiac Arrythmias, Long QT Syndrome (LQTS) and Brugada Syndrome (BrS), sponsored by Johns Hopkins University. Enrolling by invitation at 1 site in United States. Open to participants aged 18 Years to 85 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-01-16.
Sponsored by Johns Hopkins University · Observational
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.
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.
101 studies on the registry are indexed under Long QT Syndrome; 20 are open to participants now.
This study's planned enrollment of 100 is below the median of 150 across 53 observational studies indexed under Long QT Syndrome.
Browse Long QT Syndrome studies →Johns Hopkins University is the lead sponsor of 1,815 studies on the registry; 315 are open to participants now.
Of its 208 completed or terminated interventional studies of FDA-regulated products, 144 (69%) have results posted.
Counted across the registry records on this site, refreshed daily.
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.
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Exclusion Criteria:
•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.
Time frame: 10 years
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
No contact was published for this record. The registry link below has the sponsor’s details.
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