Investigating Hereditary Cardiac Disease by Reprogramming Skin Cells to Heart Muscle

Eletrophysiology of iPS-derived Cardiomyocytes Clinical Trial

— CLUE  

Official title:

Cellular Reprogramming as a Tool to Characterise the Cellular Electrophysiology of Familial Arrhythmia

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01865981
• Other study ID #: 2012CA04
• Secondary ID: T13/21
• Status: Completed
• Start date: June 2013
• Est. completion date: June 1, 2017

Study information

• Verified date: July 2020
• Source: University of Dundee
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

Recruitment information / eligibility

• Status: Completed
• Enrollment: 2
• Est. completion date: June 1, 2017
• Est. primary completion date: June 1, 2017
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

Inclusion Criteria:

• Clinical features of Brugada Syndrome (ECG findings)

• mutation positive or mutation negative

• Idiopathic ventricular fibrillation

Exclusion Criteria:

• not able to give informed consent

• Age less than 18 years

• clinical diagnosis ambiguous

Related Conditions & MeSH terms

• Eletrophysiology of iPS-derived Cardiomyocytes

Locations

Country	Name	City	State
United Kingdom	University of Dundee	Dundee	Angus

Sponsors (1)

Lead Sponsor	Collaborator
University of Dundee

Country where clinical trial is conducted

United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Derivation of iPS cells	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)	12 months
Secondary	Differentiation of iPS cells to cardiomyocytes	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.	12 months
Secondary	Electrophysiology on iPS-derived cardiomyocytes	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.	12 months