Identification of Genetic Markers for Cardiopulmonary Diseases (Genotype)

This study is designed to investigate whether an association exists between certain genes/protein levels and the development of various cardiopulmonary diseases. It is hoped that this project will provide valuable insight into the understanding of these diseases.

Official Title

Identification of Genetic Markers for Cardiopulmonary Diseases.

Conditions

• Cardiovascular Diseases

Study Type

Observational

Study Design

Cohort, Perspective.

Further Details

Primary Outcome Measures:

• Changes in NYHA WHO Functional Class,right and left heart catheterisation measurements, echocardiograms, 6MWT, laboratory values, electrocardiograms, x-ray’s, MRI’s, CT Scans, Pulmonary Function Tests, and Ventilation Perfusion Scans will be assessed.
  [Time Frame: 10 years]
  [Designated as safety issue: No]

Biospecimen Retention:  

• Samples with DNA

Biospecimen Description:

The following genetic tests will be performed on these specimens –

• Endothelin1
• Endothelin receptors A&B
• Prostaglandin
• Prostaglandin receptors
• Cytochrome P450, NPR, A, B and C
• Transforming Growth Factor (B)
• Pai-1 HindIII
• Toll-like receptor 4
• Pai-1 4g5g
• Xho-1
• P22
• Tissue Plasminogin Activators
• Urokinase Plasminogen Activators
• Fibrinogen
• Nitric Oxide Synthase
• BMPRs
• SMADs
• VEGFs
• FGFs
• Rho Kinase
• Elastins
• Angiopoietin
• PDE5
• Serotonin receptor
• Angiotensin
• Alk 1
• Cell Culture (DNA immortalization)

There is a possibility that other genetic testing could arise as the study progresses. In this case, the IRB would be notified prior to testing.

Study Start

January 2008

Eligibility & Criteria

• Ages Eligible for Study: 15 Years and older
• Genders Eligible for Study: Both
• Accepts Healthy Volunteers: No
• Sampling Method: Non-Probability Sample

Study Population:

• Participants with the diagnosis of any of the previously listed Cardiopulmonary Diseases who are ≥15 years of age will be approached and offered the opportunity to participate in this study.

Inclusion Criteria:

• Participants with the diagnosis of any of the previously listed Cardiopulmonary Diseases who are ≥15 years of age will be approached and offered the opportunity to participate in this study.

Total Enrolment

1000

Contact Details

Raymond Benza, MD
205-934-8710
rbenza@uab.edu

Location:

University of Alabama
Birmingham, Alabama
United States, 35294