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

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified December 2012 by National Taiwan University Hospital.
Recruitment status was:  Recruiting
Information provided by (Responsible Party):
National Taiwan University Hospital Identifier:
First received: September 12, 2005
Last updated: December 26, 2012
Last verified: December 2012
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 Intervention
Pulmonary Hypertension
Procedure: for BMPR II study
Genetic: BMPRII

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: Single Blind (Investigator)
Primary Purpose: Diagnostic
Official Title: Genetic Research of Bone Morphogenetic Protein Receptor-II Gene in Taiwanese Patient With Primary Pulmonary Hypertension

Resource links provided by NLM:

Further study details as provided by National Taiwan University Hospital:

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

Estimated Enrollment: 1
Study Start Date: July 2005
Estimated Study Completion Date: December 2013
Primary Completion Date: November 2009 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
other Procedure: for BMPR II study Genetic: BMPRII


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

Inclusion Criteria:

  • diagnosed as idiopathic pulmonary artery hypertension and associated family

Exclusion Criteria:

  Contacts and Locations
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Please refer to this study by its identifier: 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
  More Information

Additional Information:
Responsible Party: National Taiwan University Hospital Identifier: NCT00173537     History of Changes
Other Study ID Numbers: 9461700712
Study First Received: September 12, 2005
Last Updated: December 26, 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 processed this record on May 25, 2017