Identification of Genetic Markers for Cardiopulmonary Diseases (Genotype)

NCT00616369 | Completed

• 1 other identifier: X070116004
• Study Type: observational
• Target: 255
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Cardiovascular Diseases

Keywords

pulmonary hypertension; hypertension; cardiomyopathy; arrhythmias

Outcome Measures

Primary Outcomes (1)

• Changes in NYHA WHO Functional Class,right and left heart catheterization measurements, echocardiograms, 6MWT, laboratory values, electrocardiograms, x-ray's, MRI's, CT Scans, Pulmonary Function Tests, and Ventilation Perfusion Scans will be assessed.

  10 years

Study Arms (2)

1

I: For those patients who have had blood samples drawn as a result of participating in current protocol, Identification of Genetic Markers for Primary Pulmonary Hypertension study (X980515002), we would like to use their previously obtained blood and continue to draw samples (12mL; less than 3 tablespoons) ONLY if they change disease therapies. For those patients who participated in Pulmonary Arterial Hypertension (PAH) Database study (X030403017), these participants will also sign a consent form to participant in this new trial. We would like to use the previously obtained data from the X030403017 in part with this study. As for the X980515002 expired patients, we would like to use the previously obtained data ONLY in part for this study that was collected as a result of the X980515002 study.

2

II: Group 2: After signing a consent form, these participants will have a 12mL (less than 3 teaspoons) blood sample drawn at baseline, at 3-4 month, at 6-8 month, at 12 month, and at 24 month visits. With each disease therapy change, the blood draws (12mL samples) will begin again at baseline and continue through the 3-4, 6-8, 12, and 24 month visits.

Eligibility Criteria

• Age: 15 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.

Sponsors & Collaborators

• University of Alabama at Birmingham: lead

Study Sites (1)

University of Alabama @ Birmingham

Birmingham, Alabama, 35294, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

The following genetic tests will be performed on these specimens: Endothelin1, Endothelin receptors A\&B, Prostaglandin, Prostaglandin receptors, CytochromeP450, NPR, A, B and C, Transforming Growth Factor (B), Pai-1 HindIII, Toll-like receptor4, 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, and 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.

MeSH Terms

Conditions

Cardiovascular Diseases; Hypertension, Pulmonary; Hypertension; Cardiomyopathies; Arrhythmias, Cardiac

Condition Hierarchy (Ancestors)

Lung Diseases; Respiratory Tract Diseases; Vascular Diseases; Heart Diseases; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Robert C Bourge, MD

  University of Alabama at Birmingham Division of Medicine

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 5, 2008
• First Posted: February 15, 2008
• Study Start: January 1, 2008
• Primary Completion: January 1, 2015
• Study Completion: January 1, 2015
• Last Updated: January 11, 2016

Record last verified: 2016-01

Locations

US (1)