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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
Phase
First received
Last updated
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
Health authority
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

Study Design


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
See also
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Completed NCT04219826 - Dose-finding Study to Evaluate the Safety, Tolerability, PK, and PD of CK-3773274 in Adults With HCM Phase 2
Active, not recruiting NCT06372457 - COLLIGO-HCM: A Multinational Observational Study of the Real-World Effectiveness of Mavacamten Among Patients With Symptomatic Obstructive Hypertrophic Cardiomyopathy (oHCM)
Enrolling by invitation NCT04189822 - Hearts in Rhythm Organization (HiRO)National Registry and Bio Bank