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

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National Taiwan University

Status

Unknown

Conditions

Pulmonary Hypertension

Treatments

Procedure: for BMPR II study
Genetic: BMPRII

Study type

Interventional

Funder types

Other

Identifiers

NCT00173537
9461700712

Details and patient eligibility

About

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.

Enrollment

1 estimated patient

Sex

All

Volunteers

Accepts Healthy Volunteers

Inclusion criteria

  • diagnosed as idiopathic pulmonary artery hypertension and associated family

Exclusion criteria

  • none

Trial design

Primary purpose

Diagnostic

Allocation

Non-Randomized

Interventional model

Single Group Assignment

Masking

Single Blind

1 participants in 1 patient group

other
Other group
Treatment:
Genetic: BMPRII
Procedure: for BMPR II study

Trial contacts and locations

1

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Data sourced from clinicaltrials.gov

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