NCT03043209

Brief 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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
25

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Aug 2018

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

February 2, 2017

Completed
1 day until next milestone

First Posted

Study publicly available on registry

February 3, 2017

Completed
1.6 years until next milestone

Study Start

First participant enrolled

August 30, 2018

Completed
2.3 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 4, 2020

Completed
2.1 years until next milestone

Study Completion

Last participant's last visit for all outcomes

December 28, 2022

Completed
Last Updated

January 6, 2023

Status Verified

January 1, 2023

Enrollment Period

2.3 years

First QC Date

February 2, 2017

Last Update Submit

January 4, 2023

Conditions

Hypertrophic CardiomyopathyGenetic DiseaseGene Product Sequence Variation

Outcome Measures

Primary Outcomes (1)

  • 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

Study Arms (1)

Genomic sequencing

Perform Genomic sequencing in peripheral blood DNA and discarded myocardium from cardiac procedures

Genetic: Genomic sequencing

Interventions

Genomic sequencingGENETIC

Genomic sequencing of DNA in Blood sample and myectomy tissue

Genomic sequencing

Eligibility Criteria

Age18 Years - 100 Years
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

18 years and older, scheduled for septal myectomy and no family history of HCM

You may qualify if:

  • 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

You may not qualify if:

  • Pregnant
  • Inability to give informed consent

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Cleveland Clinic

Cleveland, Ohio, 44195, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

leftover of myectomy tissue and peripheral blood

MeSH Terms

Conditions

Cardiomyopathy, HypertrophicGenetic Diseases, Inborn

Condition Hierarchy (Ancestors)

CardiomyopathiesHeart DiseasesCardiovascular DiseasesAortic Stenosis, SubvalvularAortic Valve StenosisAortic Valve DiseaseHeart Valve DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

  • Milind Desai, MD

    The Cleveland Clinic

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Medical Doctor

Study Record Dates

First Submitted

February 2, 2017

First Posted

February 3, 2017

Study Start

August 30, 2018

Primary Completion

December 4, 2020

Study Completion

December 28, 2022

Last Updated

January 6, 2023

Record last verified: 2023-01

Locations

US(1)