Investigating Hereditary Cardiac Disease by Reprogramming Skin Cells to Heart Muscle (CLUE)
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|ClinicalTrials.gov Identifier: NCT01865981|
Recruitment Status : Active, not recruiting
First Posted : May 31, 2013
Last Update Posted : September 4, 2019
Hereditary cardiac arrhythmias (genetically caused disturbances of heart rhythm) are life threatening conditions affecting otherwise healthy young individuals. Due to the inaccessibility of heart tissue, the abnormal electrical current(s) in the heart cells causing the rhythm disturbance can be difficult to study in detail and therefore in many cases remain untreatable. The investigators propose to study heart cell electrical function from such patients by reprogramming skin cells to become stem cells and then differentiating them to heart muscle cells.
The hypothesis of the study is that the differentiated cardiac cells will display electrical abnormalities dependent on the mutation causing the disease. These abnormalities can therefore provide a clue as to the nature of the mutation causing the disease or information about its effective management
|Condition or disease|
|Eletrophysiology of iPS-derived Cardiomyocytes|
|Study Type :||Observational|
|Estimated Enrollment :||5 participants|
|Official Title:||Cellular Reprogramming as a Tool to Characterise the Cellular Electrophysiology of Familial Arrhythmia|
|Actual Study Start Date :||June 2013|
|Estimated Primary Completion Date :||June 2020|
|Estimated Study Completion Date :||June 2020|
Patients with hereditary ventricular fibrillation, negative for known mutations
Patients suffering from Brugada syndrome
- Derivation of iPS cells [ Time Frame: 12 months ]Induced pluripotent cells will be derived from all participants in the study. Differences in the efficiency of iPS cell generation from different patients will be recorded, and correlated with disease status and age. iPS cell generation will be confirmed by pluripotency markers (stable endogenous gene expression of Nanog, Oct4, Sox2; colony formation; expression of SSEA4) and ability to differentiate in the absence of self-renewal stimulus (ability to self-renew in the absence of self-renewal stimulus -loss of markers above)
- Differentiation of iPS cells to cardiomyocytes [ Time Frame: 12 months ]The ability of each iPS cell line to differentiate into spontaneously beating cardiomyocytes will be assessed. Efficiency of differentiation per lina and per patient will be recorded.
- Electrophysiology on iPS-derived cardiomyocytes [ Time Frame: 12 months ]Ability to collect electrophysiological measurements from iPS-derived cardiomyocytes will be asssessed. Resting membrane potential, Ca2+, K+ current function and sponteneous and induced depolarisation will be measured per line and per patient. Correlations with patient disease phenotype will be recorded.
Biospecimen Retention: None Retained
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01865981
|University of Dundee|
|Dundee, Angus, United Kingdom, DD1 9SY|
|Principal Investigator:||Marios P Stavridis, PhD||University of Dundee|