Clinical trial NCT04424030: International Consortium for Multimodality Phenotyping in Adults With Non-compaction
Official title: International Consortium for Multimodality Phenotyping in Adults With Non-compaction
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Non-Compaction Cardiomyopathy
Keywords: Echocardiography
Magnetic resonance imaging
Computed tomography
Prognosis
Genetics
Lead sponsor: Stanford University
Sponsor class: OTHER
Collaborators: name: The Cleveland Clinic
name: University of Pennsylvania
name: Erasmus Medical Center
name: Seoul National University Hospital
First posted: 2020-06-09
Enrollment: 600
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with hypertrabeculation of the left ventricle fulfilling echo-based criteria of non-compaction cardiomyopathy

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.


Eligibility criteria: 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

Primary outcomes:
measure: Incidence of hard embolic adverse events
timeFrame: Up to 4 years after enrollment
measure: Incidence of hard arrhythmic adverse events
timeFrame: Up to 4 years after enrollment
Secondary outcomes:
measure: Incidence of hard heart failure related adverse events
timeFrame: Up to 4 years after enrollment
measure: Incidence of composite of hard adverse events
timeFrame: Up to 4 years after enrollment
measure: Incidence of all embolic adverse events
timeFrame: Up to 4 years after enrollment
measure: Incidence of all arrhythmic adverse events
timeFrame: Up to 4 years after enrollment
measure: Incidence of all heart failure related adverse events
timeFrame: Up to 4 years after enrollment
measure: Incidence of composite of adverse events
timeFrame: Up to 4 years after enrollment
Other outcomes:
Locations:
city: Palo Alto
country: United States
facility: Stanford University
state: California
city: Cleveland
country: United States
facility: Cleveland Clinic Foundation
state: Ohio
city: Philadelphia
country: United States
facility: University of Pennsylvania
state: Pennsylvania
city: Seoul
country: Korea, Republic of
facility: Seoul National University Hospital
city: Rotterdam
country: Netherlands
facility: Erasmus Medical Center
Study officials:
affiliation: Stanford University
name: Koen Nieman, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: