The role of biomarkers in inherited cardiac conditions
Research type
Research Study
Full title
The role of biomarkers in inherited cardiac conditions
IRAS ID
217504
Contact name
Chris Miller
Contact email
Sponsor organisation
University Hospital of South Manchester NHS Foundation Trust
Duration of Study in the UK
5 years, 0 months, 1 days
Research summary
Summary of Research
Inherited cardiac conditions (ICC) comprise any hereditary condition, which may affect heart muscle, vasculature, or heart electrical conductive system. ICCs represent a major cause of heart disease in all age groups, and have significant implications for patients and their families. Symptoms vary considerably, from no symptoms to sudden death. Our understanding of these conditions has increased over the past decade, however significant limitations remains in diagnosis and risk stratification of these patients and their families.The NIH has defined a biomarker as “a characteristic that is objectively measured and evaluated as an indicator of normal biological processes, pathogenic processes, or pharmacologic responses to a therapeutic intervention”.
This study aims to investigate the utility of biomarkers in a large cohort of patients with inherited cardiac conditions with the aim of improving diagnosis and risk stratification. Biomarkers will be related to the presence and severity of cardiovascular disease and other markers of cardiac disease.
As part of this study, all patients with or with suspected ICCs attending clinics in Manchester (University Hospital of South Manchester (UHSM) and Central Manchester University Hospitals (CMFT)) will be approached over a 5 year period. The expectation is to recruit 1000 patients. Patients will undergo their clinic appointments in the usual manner. As part of the study, clinical parameters collected as part of routine care (e.g. clinical history, imaging findings, blood test results, genetic information) will be assessed in relation to each other and in relation to patient outcome over subsequent 10 year follow-up. In addition, a peripheral blood sample of up to approximately 20mL will be taken and stored to allow measurement of blood biomarkers relating to the heart, including genetic analysis, which will be related to the clinical parameters and outcome.
Summary of Results
Unfortunately, the funder for this study (Singulex), who were also the provider of the assays required for analysis of collected samples, has ceased trading, therefore we have not been able to carry out any analysis on the limited samples that were collected.In addition, almost all clinic consultations in this clinical service have become virtual, meaning that it has been very difficult to recruit in the manner we had planned, and there is very little opportunity to perform blood sampling.
Staff changes, and the impact of COVID on non-COVID research, have also had a significant effect.REC name
South Central - Berkshire B Research Ethics Committee
REC reference
16/SC/0659
Date of REC Opinion
5 Dec 2016
REC opinion
Favourable Opinion