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

Pulmonary Hypertension Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT00173537
• Other study ID #: 9461700712
• Status: Recruiting
• Phase: N/A
• First received: September 12, 2005
• Last updated: December 26, 2012
• Start date: July 2005
• Est. completion date: December 2013

Study information

• Verified date: December 2012
• Source: National Taiwan University Hospital
• Contact: n/a
• Is FDA regulated: No
• Health authority: Taiwan: Department of Health
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 1
• Est. completion date: December 2013
• Est. primary completion date: November 2009
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• diagnosed as idiopathic pulmonary artery hypertension and associated family

Exclusion Criteria:

Study Design

Allocation: Non-Randomized, Intervention Model: Single Group Assignment, Masking: Single Blind (Investigator), Primary Purpose: Diagnostic

Related Conditions & MeSH terms

• Hypertension
• Hypertension, Pulmonary
• Pulmonary Hypertension

Intervention

Procedure:
• for BMPR II study

Genetic:
• BMPRII

Locations

Country	Name	City	State
Taiwan	National Taiwan University Hospital	Taipei

Sponsors (1)

Lead Sponsor	Collaborator
National Taiwan University Hospital

Country where clinical trial is conducted

Taiwan, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	all cause follow up	all cause follow up	eight years	No

External Links

•   National Taiwan University Hospital Research Ethics Committee