Genetic Research of Bone Morphogenetic Protein Receptor-II Gene in Taiwanese Patient With Primary Pulmonary Hypertension
Primary Purpose
Pulmonary Hypertension
Status
Unknown status
Phase
Not Applicable
Locations
Taiwan
Study Type
Interventional
Intervention
for BMPR II study
BMPRII
Sponsored by
About this trial
This is an interventional diagnostic trial for Pulmonary Hypertension focused on measuring idiopathic pulmonary artery hypertension
Eligibility Criteria
Inclusion Criteria: diagnosed as idiopathic pulmonary artery hypertension and associated family Exclusion Criteria: none
Sites / Locations
- National Taiwan University HospitalRecruiting
Arms of the Study
Arm 1
Arm Type
Other
Arm Label
other
Arm Description
Outcomes
Primary Outcome Measures
all cause follow up
all cause follow up
Secondary Outcome Measures
Full Information
NCT ID
NCT00173537
First Posted
September 12, 2005
Last Updated
December 26, 2012
Sponsor
National Taiwan University Hospital
1. Study Identification
Unique Protocol Identification Number
NCT00173537
Brief Title
Genetic Research of Bone Morphogenetic Protein Receptor-II Gene in Taiwanese Patient With Primary Pulmonary Hypertension
Official Title
Genetic Research of Bone Morphogenetic Protein Receptor-II Gene in Taiwanese Patient With Primary Pulmonary Hypertension
Study Type
Interventional
2. Study Status
Record Verification Date
December 2012
Overall Recruitment Status
Unknown status
Study Start Date
July 2005 (undefined)
Primary Completion Date
November 2009 (Actual)
Study Completion Date
December 2013 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
National Taiwan University Hospital
4. Oversight
5. Study Description
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Pulmonary Hypertension
Keywords
idiopathic pulmonary artery hypertension
7. Study Design
Primary Purpose
Diagnostic
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
Investigator
Allocation
Non-Randomized
Enrollment
1 (Anticipated)
8. Arms, Groups, and Interventions
Arm Title
other
Arm Type
Other
Intervention Type
Procedure
Intervention Name(s)
for BMPR II study
Intervention Type
Genetic
Intervention Name(s)
BMPRII
Primary Outcome Measure Information:
Title
all cause follow up
Description
all cause follow up
Time Frame
eight years
10. Eligibility
Sex
All
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility Criteria
Inclusion Criteria:
diagnosed as idiopathic pulmonary artery hypertension and associated family
Exclusion Criteria:
none
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Hsao-Hsun Hsu, MD
Organizational Affiliation
Department of Surgery, National Taiwan University Hospital
Official's Role
Principal Investigator
Facility Information:
Facility Name
National Taiwan University Hospital
City
Taipei
ZIP/Postal Code
10002
Country
Taiwan
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Haso-Hsun Hsu, physician
Phone
886-2-23123456
Ext
5913
Email
ntuhfred@yahoo.com.tw
First Name & Middle Initial & Last Name & Degree
Hsao-Hsun Hsu, MD
12. IPD Sharing Statement
Links:
URL
http://www.ntuh.gov.tw/RECO/en/default.aspx
Description
National Taiwan University Hospital Research Ethics Committee
Learn more about this trial
Genetic Research of Bone Morphogenetic Protein Receptor-II Gene in Taiwanese Patient With Primary Pulmonary Hypertension
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