Genetic Predictors of Outcome in HCM Patients

Terminated

• Conditions: Hypertrophic Cardiomyopathy

• Registration Number: NCT00156429
• Lead Sponsor: University of Pittsburgh

Brief Summary

This is a retrospective review of the data available on patients and their family members with HCM and prospective follow-up of this cohort for clinical outcome and diagnostic studies. Genetic samples are being examined in this cohort to determine whether certain to determine whether certain beta-AR polymorphisms as well as other common genetic polymorphisms are associated with different morphological features, such as LVH in patients with HCM and whether these polymorphisms influence the clinical course and outcome in patients with HCM. For that purpose, we will build a database with clinical information including serial echocardiographic measurements for patients with HCM that have regular follow up and test them for beta-AR polymorphisms as well as other common genetic polymorphisms and other known cardiac-related polymorphisms that can potentially contribute to the morphologic differences seen in patients with HCM.

Detailed Description

This is a retrospective review of the data available on patients and their family members with HCM and prospective follow-up of this cohort for clinical outcome and diagnostic studies. Genetic samples are being examined in this cohort to determine whether certain to determine whether certain beta-AR polymorphisms as well as other common genetic polymorphisms are associated with different morphological features, such as LVH in patients with HCM and whether these polymorphisms influence the clinical course and outcome in patients with HCM. For that purpose, we will build a database with clinical information including serial echocardiographic measurements for patients with HCM that have regular follow up and test them for beta-AR polymorphisms as well as other common genetic polymorphisms and other known cardiac-related polymorphisms that can potentially contribute to the morphologic differences seen in patients with HCM.

Study Timeline

• Study First Submitted: 2005-09-08
• Study First Submitted QC: 2005-09-08
• Study First Posted: 2005-09-12
• Study Start: 2009-04-22
• Status Verified: 2020-07
• Primary Completion: 2020-07-30
• Study Completion: 2020-07-30
• Last Update Submitted: 2020-07-31
• Last Update Posted: 2020-08-04

Recruitment & Eligibility

• Status: TERMINATED
• Sex: All
• Target Recruitment: 98

Inclusion Criteria

• 18+ years of age
• Diagnosed with HCM defined by the presence of left ventricular hypertrophy with minimal wall thickness >/= 15mm without the presence of hypertension or systemic disease that can account for the degree of hypertrophy.

Exclusion Criteria

• Hypertension present prior to the diagnosis of HCM
• aortic stenosis with aortic valve area < 1cm2
• known systemic disease that can cause LVH, such as infiltrative diseases
• able and willing to provide informed consent

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Genetic testing	Day 1 at the time of enrollment	AR polymorphisms will be correlated to progression of LVH and clinical outcome in patients with HCM.

Trial Locations

Locations (1)

UPMC Presbyterian Hospital; 🇺🇸 Pittsburgh, Pennsylvania, United States