International Consortium for Multimodality Phenotyping in Adults With Non-compaction

Recruiting

• Conditions: Non-Compaction Cardiomyopathy

• Registration Number: NCT04424030
• Lead Sponsor: Stanford University

Brief 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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2020-06-05
• Study First Submitted QC: 2020-06-05
• Study First Posted: 2020-06-09
• Study Start: 2021-01-01
• Status Verified: 2025-03
• Last Update Submitted: 2025-03-25
• Last Update Posted: 2025-03-26
• Primary Completion: 2026-04-01
• Study Completion: 2027-04-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 600

Inclusion Criteria

• ≥18 years old
• Hypertrabeculation of the left ventricle fulfilling the echo-based Jenni criteria of NCCM
• Clinical cardiac MRI examination performed or planned

Exclusion Criteria (general cohort):

• Complex congenital disease (including transposition great arteries, tetralogy of Fallot, tricuspid atresia, truncus arteriosis, single ventricle, hypoplastic left heart, pulmonary atresia, double-outlet RV), neuromuscular disorders or isolated RV non-compaction
• Inability to provide informed consent
• Contra-indications to MRI, which apply if the clinical cardiac MRI has not yet been performed at the time of study enrollment: permanent pacemakers/ICDs, MRI contrast medium allergy, significant arrhythmia with highly irregular RR intervals, severe dyspnea with inability to lay flat/breath hold, inability to communicate with the MRI technician or follow commands for any reason (psychosis, agitation, etc.), other site-specific contra-indications to clinical MRI of the heart.

Exclusion Criteria (cardiac CT examination):

• Age <21 years
• Decompensated heart failure, or otherwise clinically unstable
• BMI>40 kg/m2
• Pregnancy (or cannot be ruled out)
• Known iodine contrast medium allergy
• Kidney dysfunction: eGFR<45 ml/min
• Thyroid disease: toxic multinodular goiter, Graves' disease, Hashimoto's thyroiditis

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Incidence of hard embolic adverse events	Up to 4 years after enrollment	Clinical neuro/systemic embolic event by autopsy, imaging or specialist evaluation
Incidence of hard arrhythmic adverse events	Up to 4 years after enrollment	Sudden death (aborted), appropriate ICD discharge or VT/VF on ECG or rhythm/device monitoring

Secondary Outcome Measures

Name	Time	Method
Incidence of composite of adverse events	Up to 4 years after enrollment	All embolic, arrhythmic or heart failure related adverse events (as described above)
Incidence of composite of hard adverse events	Up to 4 years after enrollment	Hard embolic, arrhythmic and heart failure related adverse events (as described above)
Incidence of all embolic adverse events	Up to 4 years after enrollment	Hard embolic adverse events or transient neurologic event without objective infarction
Incidence of all arrhythmic adverse events	Up to 4 years after enrollment	Hard arrhythmic adverse events or syncope without recorded arrhythmia
Incidence of all heart failure related adverse events	Up to 4 years after enrollment	Hard heart failure related adverse events or resynchronization therapy, heart failure hospital admission
Incidence of hard heart failure related adverse events	Up to 4 years after enrollment	Heart failure death, cardiac transplantation or mechanical circulatory support

Trial Locations

Locations (5)

Stanford University; 🇺🇸 Palo Alto, California, United States

Cleveland Clinic Foundation; 🇺🇸 Cleveland, Ohio, United States

University of Pennsylvania; 🇺🇸 Philadelphia, Pennsylvania, United States

Seoul National University Hospital; 🇰🇷 Seoul, Korea, Republic of

Erasmus Medical Center; 🇳🇱 Rotterdam, Netherlands