Clinical trial NCT00156429: Genetic Predictors of Outcome in HCM Patients
Official title: Genetic Predictors of Outcome in HCM Patients
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Hypertrophic Cardiomyopathy
Keywords: genetic testing
Lead sponsor: University of Pittsburgh
Sponsor class: OTHER
First posted: 2005-09-12
Enrollment: 98
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: patients with HCM

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.

Eligibility criteria: 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

Primary outcomes:
measure: Genetic testing
timeFrame: Day 1 at the time of enrollment
Secondary outcomes:
Other outcomes:
Locations:
city: Pittsburgh
country: United States
facility: UPMC Presbyterian Hospital
state: Pennsylvania
Study officials:
affiliation: University of Pittsburgh
name: Samir F. Saba, MD
role: PRINCIPAL_INVESTIGATOR
References: