International Consortium for Multimodality Phenotyping in Adults With Non-compaction

Summary

Non-compaction cardiomyopathy (NCCM) is a heterogeneous, poorly understood disorder characterized by a prominent inner layer of loose myocardial tissue, and associated with heart failure, stroke, severe rhythm irregularities and death. For a growing population diagnosed with NCCM there is a need for better risk stratification to appropriately allocate (or safely withhold) these impactful preventive measures. The goal of this international consortium is to improve care of patients with non-compaction cardiomyopathy. We hypothesize that comprehensive analysis of clinical, genetic, structural and functional information will improve risk stratification. In addition, we hypothesize that detailed structural analysis will allow for differentiation of pathological and benign patterns of non-compaction. In a large cohort of adult patients with suspected NCCM we will perform in-depth phenotyping, including clinical information, pedigree data, genetics, echocardiography and MRI, and follow patients for up to 3 years. We will apply machine-learning based analytics to develop predictive models and compare their performance to currently used models and treatment criteria. Secondly, in a subset of patients we will perform high-resolution cardiac CT for detailed structural characterization of the myocardial wall. We will investigate associations between myocardial structure and regional contractile function, as assessed by echo and MRI. The aim of this proposal is to identify a structural signature associated with pathological non-compaction and improve developed risk prediction models. Discovery of pathological structural signatures through innovative imaging techniques, in relation to myocardial contractility, will advance our understanding of NCCM.

Conditions

• Non-Compaction Cardiomyopathy

Interventions

DIAGNOSTIC_TEST

Computed tomography (CT)

ECG-triggered, contrast-enhanced CT scan of the heart performed for research purposes in eligible study participants.

DIAGNOSTIC_TEST

Echocardiography

Standard echocardiography exam performed as part of clinical management.

DIAGNOSTIC_TEST

Magnetic resonance imaging (MRI)

Standard comprehensive cardiac MRI exam of the heart performed as part of clinical management.

Sponsors & Collaborators

• The Cleveland Clinic

  collaborator OTHER

• University of Pennsylvania

  collaborator OTHER

• Erasmus Medical Center

  collaborator OTHER

• Seoul National University Hospital

  collaborator OTHER

• Stanford University

  lead OTHER

Principal Investigators

• Koen Nieman, MD, PhD · Stanford University

Eligibility

Min Age

18 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2021-01-01

Primary Completion

2027-04-01

Completion

2030-04-01

Countries

• United States
• Netherlands
• South Korea

Study Locations