RecruitingACTRN12622000772741

NSW HEARTS: The NSW Inherited Cardiomyopathy Cohort Study

Sponsor

Garvan Institute of Medical Research

Enrollment

3,000 participants

Start Date

Dec 1, 2021

Study Type

Observational

Conditions

Asymptomatic gene carrier Genetically confirmed heritable cardiomyopathy not already eligible Undiagnosed but familial cardiomyopathy Left ventricular noncompaction Inherited Cardiomyopathy

Summary

The NSW Inherited Cardiomyopathy Cohort or NSW HEARTS is a cohort study that aims to recruit over 2,500 participants from NSW with inherited cardiomyopathies, and prospectively follow them over time . The overarching aim of this study is to create a large, well-characterised cohort of patients with inherited cardiomyopathies in NSW for cross-sectional and longitudinal analysis. This will serve as an invaluable resource for numerous other research projects, as well as an opportunity for future data collection waves, extending follow-up even further. Data collected will include clinical information, cardiac investigations, blood sample, cardiac MRI and NSW Health linked data. All participant samples will undergo whole-genome sequencing (WGS), which will allow us to investigate the impact of genetic variants. The resulting dataset will enable us to perform analyses that have the potential to solve the genetic basis of diseases for many families and will be directly translated to improved variant classification criteria. Moreover, we can also seek to understand this new paradigm of non-familial disease and allow precision-based approaches to the care of families.

Eligibility

Sex: Both males and femalesMin Age: 17 Yearss

Plain Language Summary

Simplified for easier understanding

Inherited cardiomyopathies are a group of heart muscle diseases — including hypertrophic, dilated, and arrhythmogenic cardiomyopathy — that are passed down through families and can cause serious heart problems, including sudden cardiac death. The NSW HEARTS study aims to build one of the largest, most detailed databases of people with these conditions in New South Wales, bringing together clinical records, cardiac MRI scans, blood samples, and whole-genome sequencing. By collecting in-depth data from over 2,500 participants and following them over time, researchers hope to identify patterns in how these diseases progress, uncover the genetic variants responsible in families where the cause is unknown, and ultimately improve how these conditions are diagnosed and treated. The data will also be used to develop better guidelines for managing complications. You may be eligible if you are 17 or older, reside in NSW, and have a confirmed or suspected inherited cardiomyopathy — including being an asymptomatic gene carrier. There are no exclusion criteria for this study. The research is led by the Garvan Institute of Medical Research in Sydney.

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Interventions

NSW HEARTS is a cohort study that aims to recruit over 3000 participants from NSW diagnosed with inherited cardiomyopathies and prospectively follow them over time. The overarching aim of this study is to create a large, well-characterised cohort of patients with inherited cardiomyopathies in NSW for cross-sectional and longitudinal analysis. The project will continue for 10 years, subject to ongoing ethics approval. Participants involved in this project will have their data collected. Data collected will include clinical information (e.g. medical records from birth or diagnosis to date), cardiac investigations (e.g. digital ECG, echocardiogram reports), blood sample (20ml of whole blood), cardiac magnetic resonance imaging and NSW Health linked data (NSW Emergency Department Data Collection, NSW Admitted Patient Collection, NSW Mortality dataset). Participants will also be invited to complete some online surveys about their health. This will include a clinical survey, environmental factors survey and health status survey. Each survey will take approximately 15-20mins to complete. The time of survey administration is within the first few months of consent (for all 3 surveys), then on an annual basis (for follow-up clinical survey only) and every 3 years basis after (for all 3 surveys) until the close of the study. All participants will be asked to have a 20mL blood sample collected from their vein in their arm at a NSW Health Pathology blood collection clinic. Samples will be stored as serum, plasma and DNA at the NSW Health Statewide Biobank. During the study period, all samples will undergo research-based genome sequencing at an accredited sequencing provider. If any clinically actionable variants are identified during the process of genomic testing, the participant and their nominated health professional will be notified of the result. We will also provide a report, either electronic or hardcopy, to participants which will also be sent to their nominated health professional.

Locations(3)

Royal Prince Alfred Hospital - Camperdown

NSW, Australia

St Vincent's Hospital (Darlinghurst) - Darlinghurst

NSW, Australia

Westmead Hospital - Westmead

NSW, Australia

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ACTRN12622000772741