Genomic Sequencing in Patients With HCM Undergoing Septal Myectomy

Hypertrophic Cardiomyopathy Clinical Trial

Official title:

Genomic Sequencing in Patients With Hypertrophic Cardiomyopathy Undergoing Septal Myectomy

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03043209
• Other study ID #: 17-090
• Status: Completed
• Start date: August 30, 2018
• Est. completion date: December 28, 2022

Study information

• Verified date: January 2023
• Source: The Cleveland Clinic
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 25
• Est. completion date: December 28, 2022
• Est. primary completion date: December 4, 2020
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 100 Years

Eligibility

Inclusion Criteria:

• Patient is 18 years and older has a clinical diagnosis of hypertrophic cardiomyopathy.

• Patient scheduled for clinically-indicated myomectomy.

• Patient has a negative family history of hypertrophic cardiomyopathy

• Patient is willing to receive results of secondary variant screen

Exclusion Criteria:

• Pregnant

• Inability to give informed consent

Related Conditions & MeSH terms

• Cardiomyopathies
• Cardiomyopathy, Hypertrophic
• Gene Product Sequence Variation
• Genetic Disease
• Genetic Diseases, Inborn
• Hypertrophic Cardiomyopathy
• Hypertrophy

Intervention

Genetic:
• Genomic sequencing
Genomic sequencing of DNA in Blood sample and myectomy tissue

Locations

Country	Name	City	State
United States	Cleveland Clinic	Cleveland	Ohio

Sponsors (1)

Lead Sponsor	Collaborator
The Cleveland Clinic

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Genetic causes of HCM in patients without a strong family history of the condition	The investigators will use DNA testing technology called "genomic sequencing"	one year