Genomic Sequencing in Patients With HCM Undergoing Septal Myectomy

Status Completed

Clinical Trial Summary

Investigators aim to use comparative exome and/or genome sequencing to discover causative molecular lesions for phenotypes hypothesized to be caused by somatic mutations. For this study, investigators have targeted hypertrophic cardiomyopathy.

Clinical Trial Description

The hypothesis is that sporadic or simplex occurrences of what are typically autosomal dominantly inherited diseases can instead be caused my mosaic mutations, specifically, mutations in the heart itself. This hypothesis mandates that investigators sequence both affected and unaffected tissues, which in this case, investigators will construe to be peripheral blood DNA and discarded myocardium from cardiac procedures. Eligible individuals will first undergo informed consent to be part of the study prior to their scheduled myomectomy. The study participants will also have phlebotomy for research samples. The NIH Intramural Sequencing Center (NISC) will perform paired exome or genome sequencing and we will first screen for germline mutations in known cardiomyopathy genes that meet ACMG standards of likely pathogenic or pathogenic. Then, if this is negative, investigators will screen for sequence variants that are present in cardiac tissue but absent in the blood DNA. Investigators will also screen blood DNA for secondary findings in genes recommended for annotation and results return by the ACMG and sequence variants deemed clinically relevant in this gene set will be validated in a CLIA-certified laboratory and the results returned to that participant. ;

Study Design

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT03043209
Study type	Observational
Source	The Cleveland Clinic
Contact
Status	Completed
Phase
Start date	August 30, 2018
Completion date	December 28, 2022

View Details

See also
Status	Clinical Trial	Phase
Terminated	`NCT03249272` - Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve	Phase 4
Recruiting	`NCT03846297` - Optimisation of Decision Making for Defibrillator Implantation in Hypertrophic Cardiomyopathy
Completed	`NCT02806479` - Hypertrophic Cardiomyopathy Pilot Study
Active, not recruiting	`NCT01225978` - Refining Information Technology Support for Genetics in Medicine	N/A
Completed	`NCT00001632` - Investigation Into the Use of Ultrasound Technique in the Evaluation of Heart Disease	N/A
Completed	`NCT00001534` - Long Term Effects of Enalapril and Losartan on Genetic Heart Disease	N/A
Enrolling by invitation	`NCT04050579` - OPIE in the Thin Interventricular Septum	N/A
Completed	`NCT03537183` - Will Elevated Left Ventricle Filling Pressures Decrease by a Group Exercise Program in Patients With Hypertrophic CardioMyopathy?	N/A
Completed	`NCT02590809` - Hypertrophic Cardiomyopathy Symptom Release by BX1514M	Phase 2
Completed	`NCT00001396` - Natural History and Results of Dual Chamber (DDD) Pacemaker Therapy of Children With Obstructive Hypertrophic Cardiomyop...	Phase 1
Active, not recruiting	`NCT03723655` - A Long-Term Safety Extension Study of Mavacamten in Adults Who Have Completed MAVERICK-HCM or EXPLORER-HCM	Phase 2/Phase 3
Completed	`NCT05135871` - Study Evaluating the Pharmacokinetics of Mavacamten in Healthy Adult Chinese Subjects	Phase 1
Completed	`NCT04129905` - Assessment of the Relations Between Endothelial and Venous Dysfunctions and Left Ventricular Obstruction in Genetic Hypertrophic Cardiomyopathies	N/A
Recruiting	`NCT03061994` - Metabolomic Study of All-age Cardiomyopathy	N/A
Completed	`NCT02234336` - Assessment of Wall Thickness in Hypertrophic Cardiomyopathy
Recruiting	`NCT00221832` - Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases	N/A
Not yet recruiting	`NCT03706001` - Efficacy of Psychotherapy for Improving Quality of Life in Patients With Hypertrophic Cardiomyopathy and Depression	N/A
Recruiting	`NCT06169358` - Screening Patients With Fabry Disease in Patients With Hypertrophic Cardiomyopathy or Left Ventricular Hypertrophy
Not yet recruiting	`NCT04090437` - HCM-AF Ablation With ACUTUS	N/A
Completed	`NCT04402268` - Efficacy of Risk Assessment for Sudden Cardiac Death in Patients With Hypertrophic Cardiomyopathy