Genetic Research of Bone Morphogenetic Protein Receptor-II Gene in Taiwanese Patient With Primary Pulmonary Hypertension

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00173537
Recruitment Status : Unknown
Verified December 2012 by National Taiwan University Hospital.
Recruitment status was:  Recruiting
First Posted : September 15, 2005
Last Update Posted : December 27, 2012
Information provided by (Responsible Party):
National Taiwan University Hospital

Brief Summary:
Primary pulmonary hypertension (PPH) is a rare lung disorder in which the blood pressure in the pulmonary artery rises far above normal levels for no apparent reason. The pulmonary artery is a blood vessel carrying oxygen-poor blood from the right ventricle (one of the heart's pumping chambers) to the lungs. In the lungs, the blood picks up oxygen, then flows to the heart's left side, where the left ventricle pumps it to the rest of the body through the aorta. In the United States, an estimated 500 to 1,000 new cases of primary pulmonary hypertension are diagnosed each year. The greatest number is reported in women between ages 20 and 40. However, men and women in all age ranges as well as very young children can develop PPH. Researchers have identified more than 40 BMPR2 mutations that can cause primary pulmonary hypertension. Many of these mutations introduce a stop signal that halts protein production prematurely, decreasing the amount of functional BMPR2 protein. Other mutations prevent the BMPR2 protein from reaching the cell surface, or alter its structure so it cannot form a complex with other proteins. It remains unclear how BMPR2 mutations cause primary pulmonary hypertension. Researchers suggest that a mutation in this gene prevents cell death or promotes cell proliferation, resulting in an overgrowth of cells in the blood vessels of the lungs. Cell overgrowth can narrow the diameter of the vessels, restricting blood flow and resulting in elevated blood pressure. However, it has not yet been reported regarding the genetic variants in Taiwan. Further details have been described in this project proposal.

Condition or disease Intervention/treatment Phase
Pulmonary Hypertension Procedure: for BMPR II study Genetic: BMPRII Not Applicable

Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 1 participants
Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: Single (Investigator)
Primary Purpose: Diagnostic
Official Title: Genetic Research of Bone Morphogenetic Protein Receptor-II Gene in Taiwanese Patient With Primary Pulmonary Hypertension
Study Start Date : July 2005
Actual Primary Completion Date : November 2009
Estimated Study Completion Date : December 2013

Arm Intervention/treatment
other Procedure: for BMPR II study
Genetic: BMPRII

Primary Outcome Measures :
  1. all cause follow up [ Time Frame: eight years ]
    all cause follow up

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes

Inclusion Criteria:

  • diagnosed as idiopathic pulmonary artery hypertension and associated family

Exclusion Criteria:

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00173537

National Taiwan University Hospital Recruiting
Taipei, Taiwan, 10002
Contact: Haso-Hsun Hsu, physician    886-2-23123456 ext 5913   
Principal Investigator: Hsao-Hsun Hsu, MD         
Sponsors and Collaborators
National Taiwan University Hospital
Principal Investigator: Hsao-Hsun Hsu, MD Department of Surgery, National Taiwan University Hospital

Additional Information:
Responsible Party: National Taiwan University Hospital Identifier: NCT00173537     History of Changes
Other Study ID Numbers: 9461700712
First Posted: September 15, 2005    Key Record Dates
Last Update Posted: December 27, 2012
Last Verified: December 2012

Keywords provided by National Taiwan University Hospital:
idiopathic pulmonary artery hypertension

Additional relevant MeSH terms:
Hypertension, Pulmonary
Familial Primary Pulmonary Hypertension
Vascular Diseases
Cardiovascular Diseases
Lung Diseases
Respiratory Tract Diseases