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

This study is currently recruiting participants. (see Contacts and Locations)
Verified December 2012 by National Taiwan University Hospital
Sponsor:
Information provided by (Responsible Party):
National Taiwan University Hospital
ClinicalTrials.gov Identifier:
NCT00173537
First received: September 12, 2005
Last updated: December 26, 2012
Last verified: December 2012
  Purpose

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 ] [ Designated as safety issue: No ]
    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
NA
Procedure: for BMPR II study Genetic: BMPRII
NA

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Criteria

Inclusion Criteria:

  • diagnosed as idiopathic pulmonary artery hypertension and associated family

Exclusion Criteria:

  • none
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00173537

Locations
Taiwan
National Taiwan University Hospital Recruiting
Taipei, Taiwan, 10002
Contact: Haso-Hsun Hsu, physician    886-2-23123456 ext 5913    ntuhfred@yahoo.com.tw   
Principal Investigator: Hsao-Hsun Hsu, MD         
Sponsors and Collaborators
National Taiwan University Hospital
Investigators
Principal Investigator: Hsao-Hsun Hsu, MD Department of Surgery, National Taiwan University Hospital
  More Information

Additional Information:
No publications provided

Responsible Party: National Taiwan University Hospital
ClinicalTrials.gov Identifier: NCT00173537     History of Changes
Other Study ID Numbers: 9461700712
Study First Received: September 12, 2005
Last Updated: December 26, 2012
Health Authority: Taiwan: Department of Health

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

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

ClinicalTrials.gov processed this record on September 16, 2014