ACIS study
Research type
Research Study
Full title
Arrhythmogenic Cardiomyopathy Induced Pluripotent Stem Cell (ACIS) study
IRAS ID
162705
Contact name
David Lee
Contact email
Sponsor organisation
The Newcastle upon Tyne Hospitals NHS Foundation Trust
Research summary
People with arrhythmogenic right ventricular cardiomyopathy / cardiomyopathy (ARVC/D) have abnormalities in the way that their heart muscle cells bind together. This may be caused by a change in their genetic code called a mutation. We can identify the mutation in half of the cases of ARVC/D, however the disease runs in families even if we can’t find the mutation, so we think that there are some mutations yet to be discovered.
A new method of studying heart disease has been developed in which blood cells can be changed into heart muscle cells in the laboratory. Blood cells carry the same genetic code as heart cells and we want to find out whether heart muscle cells created in the laboratory from people with ARVC/D have abnormalities in binding too.
This study may help us develop a new test to predict a person’s risk of developing ARVC/D. If we can’t identify the mutation that has cause ARVC/D in an individual, then we can’t use genetic testing to determine if their relatives are at risk of developing the disease. If we can show that the binding of laboratory heart muscle cells is a reliable indicator of a person’s risk of developing ARVC/D then this could be a useful screening test in these families.
We will compare laboratory heart muscle cells from a small group of patients with ARVC/D (including some without identifiable mutations) with a small group of controls. We will use to results of this study to plan further research involving more participants aimed at investigating the potential of this technique to be used as a new screening test.REC name
East Midlands - Nottingham 1 Research Ethics Committee
REC reference
14/EM/1147
Date of REC Opinion
22 Sep 2014
REC opinion
Further Information Favourable Opinion