Genetic Predictors of Outcome in HCM Patients

NCT00156429 | Terminated

• 1 other identifier: 0507025
• Study Type: observational
• Target: 98
• Locations: 1 country
• Sites: 1

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.

Conditions

Hypertrophic Cardiomyopathy

Keywords

genetic testing

Outcome Measures

Primary Outcomes (1)

• Genetic testing

  AR polymorphisms will be correlated to progression of LVH and clinical outcome in patients with HCM.

  Day 1 at the time of enrollment

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

patients with HCM

You may qualify if:

• + 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• University of Pittsburgh: lead

Study Sites (1)

UPMC Presbyterian Hospital

Pittsburgh, Pennsylvania, 15213, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample for DNA analysis

MeSH Terms

Conditions

Cardiomyopathy, Hypertrophic

Condition Hierarchy (Ancestors)

Cardiomyopathies; Heart Diseases; Cardiovascular Diseases; Aortic Stenosis, Subvalvular; Aortic Valve Stenosis; Aortic Valve Disease; Heart Valve Diseases

Study Officials

• Samir F. Saba, MD

  University of Pittsburgh

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor

Study Record Dates

• First Submitted: September 8, 2005
• First Posted: September 12, 2005
• Study Start: April 22, 2009
• Primary Completion: July 30, 2020
• Study Completion: July 30, 2020
• Last Updated: August 4, 2020

Record last verified: 2020-07

Locations

US (1)