The SMARTER Cardiomyopathy Study (SMARTER-CM)

Genetics, Imaging and Artificial Intelligence for Precision Care in Cardiomyopathy

Cardiomyopathies are diseases of the heart muscle. Known genetic factors may account for some cardiomyopathy cases but there is still much to understand about the genetic and environmental causes and how the disease progresses.

Finding new ways to diagnose and treat cardiomyopathies could improve the health and well-being of patients with these conditions.

This study will collect data from individuals with cardiomyopathy or related heart muscle disease, or with a possible genetic predisposition to cardiomyopathy, and follow them over time to observe the progress of their heart and health. This study will collect DNA, blood samples, and detailed clinical & lifestyle information at the start of the study, and data collected during routine healthcare visits over time.

• learn what causes cardiomyopathy, and therefore how to treat it
• understand why cardiomyopathy progresses differently in different people, to improve the ability to recognise who will benefit from different treatments at different times

The investigators will collaborate with other centres internationally to collect a large of group of participants with similar cardiomyopathies, providing power to identify new pathways that cause disease and ways of predicting which participants are at risk of having more severe disease.

Study Overview

• Status: Recruiting
• Conditions: Cardiomyopathies; Dilated Cardiomyopathy; Hypertrophic Cardiomyopathy
• Intervention / Treatment: Other: Blood Sample Collection

• Study Type: Observational
• Enrollment (Estimated): 1000

Contacts and Locations

• Study Contact: Name: Study Coordinator; Phone Number: 02073528121; Email: smarter-cm@imperial.ac.uk

Study Locations

• United Kingdom
  • London, United Kingdom
    • Recruiting
    • Kings College Hospital
    • Contact: Email: smarter-cm@imperial.ac.uk
  • London, United Kingdom
    • Recruiting
    • Guys & St Thomas' NHS Foundation Trust
    • Contact: Email: smarter-cm@imperial.ac.uk

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

People with a diagnosis of cardiomyopathy, or a family member of cardiomyopathy or a genetic predisposition to cardiomyopathy of any age and any sex.

Description

Inclusion Criteria:

Adults with the capacity to consent Children with parental/guardian consent Male and Female

Meeting the following criteria:

1. Patients with a confirmed diagnosis of cardiomyopathy or related condition
2. Patients with a family member with cardiomyopathy, or a related condition
3. Patients with a genetic variant that may predispose to cardiomyopathy, or a related condition

Exclusion Criteria:

Patients without the capacity to provide informed consent

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Cardiomyopathies; Approximately 1000 participants recruited prospectively from participating sites with a diagnosis of cardiomyopathy Participants will provide biosamples and allow access to medical scans and records for health data collection	Other: Blood Sample Collection; Blood for DNA and biomarker analysis

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Incidence of genetic variants	Rare and common genetic variants in people with cardiomyopathy	5 years
The incidence of major adverse cardiovascular events over 5 years	The incidence of major adverse cardiovascular events over 5 years, defined as:-; Cardiovascular death; Major arrhythmic events (ventricular fibrillation, unstable sustained ventricular tachycardia, appropriate implantable cardioverter-defibrillator delivered shock, and aborted sudden cardiac death); Major heart failure events (heart transplantation, left ventricular assist device implantation, unplanned heart failure hospitalisation)	5 years

Collaborators and Investigators

• Sponsor: Imperial College London
• Investigators: Principal Investigator: James Ware, Imperial College London

Study record dates

Study Major Dates

• Study Start (Actual): March 1, 2023
• Primary Completion (Estimated): August 1, 2027
• Study Completion (Estimated): August 1, 2027

Study Registration Dates

• First Submitted: January 23, 2023
• First Submitted That Met QC Criteria: February 20, 2023
• First Posted (Actual): March 1, 2023

Study Record Updates

• Last Update Posted (Actual): March 6, 2024
• Last Update Submitted That Met QC Criteria: March 5, 2024
• Last Verified: March 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Heart Diseases; Cardiovascular Diseases; Genetic Diseases, Inborn; Aortic Valve Disease; Heart Valve Diseases; Cardiomegaly; Laminopathies; Aortic Stenosis, Subvalvular; Aortic Valve Stenosis; Cardiomyopathies; Cardiomyopathy, Dilated; Cardiomyopathy, Hypertrophic
• Other Study ID Numbers: 22IC7783

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: Data will be shared with collaborating researchers in a pseudonymised fashion (removing names, addresses, identifying numbers, DOB etc)
• IPD Sharing Time Frame: During study duration (Aug 2027)
• IPD Sharing Access Criteria: Provided through secure data transfer mechanisms approved by Imperial College London, following full GDPR (data protection) assessments and collaborating agreements.
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; SAP; ICF; CSR

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No