Current research studies

We encourage people to take part in clinical trials (where appropriate) and we promote research projects which can make a real difference to how cardiomyopathy is understood and treated. 

Below you can find more information about current research projects, and how you can get involved. 


 

NON CLINICAL : Dealing with genetic uncertainty in cardiac disorders

Dealing with genetic uncertainty in cardiac disorders: an interview study exploring the impact of cardiac VUS results on patients and their families.

Many people who undertake genetic testing for an inherited cardiac (heart) condition do not receive a certain result. Instead, a gene change is found where there is not enough evidence available to say whether the gene change is disease causing or part of the natural, harmless variation that all humans have. This is known as a variant of uncertain significance (VUS). This study aims to explore how this result may impact on a patient and their family. We are looking for individuals 18 and older that have received a VUS result on a cardiac genetic test.

Taking part would involve one 45 – 60 minute interview carried out by the student researcher. These would take place over Zoom or by telephone, depending on your preference. During the interview, you would be asked to talk about your experiences around genetic testing, receiving your result and any impacts this has had on you and your family. Your feedback will help us understand people’s experiences around this type of test result and how genetic information is used by patients and shared with their families. This knowledge can then be shared to help guide discussions with future cardiac patients before and after genetic testing.

The student researcher will be Roseanna Holland, Cardiff University MSc in Genomic and Genetic Counselling, who will be supervised by Marion McAllister, Project Supervisor.

To sign up for the study or find out more information, please contact Roseanna by email at hollandrm1@cardiff.ac.uk

This study has been reviewed by and received ethics clearance from Cardiff University’s Research Ethics Committee.

Heart
NON CLINICAL : MyClimb

Tenaya Therapeutics, a biotechnology company committed to discovering, developing, and delivering curative therapies that address the underlying causes of heart disease is sponsoring a study to better understand pediatric cardiomyopathy due to the MYBPC3 mutation. 

The MyClimb Natural History Study is designed to collect and evaluate information on the course of cardiomyopathy in children and adolescents <18 years of age with the MYBPC3 genetic mutation. Please see the attached PDF for more information and who to contact if you are interested in having your child participate

MyClimb
NON CLINICAL: Cardiomyopathy and rehabilitation services

This social research looks at people's experience with cardiomyopathy who have taken cardiac rehabilitation programmes. The research is being conducted by an MSc student at De Montfort University, Leicester. You can read about the study and how to sign up here 

Rehab study
CLINICAL: REALM-DCM

This research study looks at the role of the Lamin gene in Dilated Cardiomyopathy. You can find out more about this project here. Clinical trials are being conducted at St Barts in London and the Queen Elizabeth Hospital in Glasgow and the Royal Brompton Hospital in London. If you are receiving treatment from these centres please ask your doctor about the trial.

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NON CLINICAL : The psychological issues and clinical experiences influencing predictive testing of genetic cardiomyopathy

TO TEST OR NOT TO TEST? A STUDY INTO THE PSYCHOSOCIAL ISSUES AND CLINICAL EXPERIENCES INFLUENCING PREDICTIVE TESTING OF GENETIC CARDIOMYOPATHIES.

We are looking for adults (18 and older) who have discussed predictive genetic testing, to participate in a telephone or video interview study. The interview will last approximately 60 minutes. This will focus on your experiences of the journey from learning of a Cardiomyopathy in the family, to being offered predictive genetic testing, and also the reason behind your decision about genetic testing. By listening to your views and experiences, we aim to improve our understanding of the referral process and the influencing factors behind predictive genetic testing. We can then share this knowledge to help the future development of services The student researcher will be Rebecca Jones, Cardiff University MSc in Genomic and Genetic Counselling, who will be supervised by Caroline Benjamin, Project Supervisor.

For more information about this study, or to volunteer as a participant, please contact Rebecca by email at Jonesr185@cardiff.ac.uk

Rebecca Jones MSc Student, Genetic and Genomic Counselling Cardiff University
Jonesr185@cardiff.ac.uk

This study has been reviewed by and received ethics clearance from Cardiff University’s Research Ethics Committee.

Cardiff University Logo
CLINICAL: Heart Hive

Heart Hive is a new database for individuals who have shown an interest in participating in clinical trials and attempts to match people with researchers looking for trial participants. If you would like to sign up, visit the Heart Hive website.

Heart Hive Logo
CLINICAL: CRUCIAL

Vascular dementia and heart failure represent major health burden to morbidity, mortality and quality of life.

Comorbidities (hypertension, aging, diabetes, etc.) affect all organs, but the brain and heart are especially sensitive to these chronic stresses resulting in cognitive impairment (a mental disorder) and heart failure (a non-mental disorder). These comorbidities also induce a reduction in microvascular density, called microvascular rarefaction. Diagnosis of microvascular rarefaction is limited by the inability to assess microvascular density. The CRUCIAL research project brings together a consortium of researchers, scientists and patients to develop a coordinated program to establish clinical tools to measure rarefaction and investigate the role of microvascular rarefaction in cognitive impairment and heart failure. You can find our more about this project here 

CRUCIAL project