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Genetic and Environmental Characteristics of Primary Pulmonary Hypertension

This study has been completed.
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
Jim Loyd, Vanderbilt University Identifier:
First received: September 10, 2004
Last updated: February 1, 2016
Last verified: February 2016
The goal of this study is to identify the modifying genes and environmental features that regulate the clinical expression of mutations in bone morphogenetic protein receptor 2 (BMPR2); to develop the understanding of how BMPR2 mutations result in disease; and to identify the undiscovered genetic mutations that cause primary pulmonary hypertension (PPH).

Lung Diseases Hypertension, Pulmonary

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Genetic and Environmental Pathogenesis of PPH

Resource links provided by NLM:

Further study details as provided by Jim Loyd, Vanderbilt University:

Primary Outcome Measures:
  • New development of pulmonary arterial hypertension (penetrance), age of onset, and survival [ Time Frame: Measured through genetic analysis ]

Biospecimen Retention:   Samples With DNA
Specimens from 100 families affected by PPH

Enrollment: 3000
Study Start Date: August 2003
Study Completion Date: July 2009
Primary Completion Date: July 2009 (Final data collection date for primary outcome measure)
Detailed Description:


PPH is a progressive disease that causes obstruction of the smallest arteries in the lungs, which often leads to heart failure. It threatens the lives of thousands of individuals. PPH affects both genders at any age, although females are affected twice as often as males. In a recent important advance, mutations in BMPR2 were associated with both familial and sporadic PPH. Because only 20% of people with a BMPR2 mutation ever develop PPH, other genes or modifying biologic events must contribute to the clinical development of the disease. PPH was recently renamed Idiopathic Pulmonary Arterial Hypertension or Familial Pulmonary Arterial Hypertension.


This study will utilize a database and specimen bank developed from 100 families affected by PPH across the United States. In families with genetic mutations not yet identified, changes in the BMPR2 gene will be studied, including in the promoter and intronic regions, and chance recombination events that could confirm another locus near 2q33 will be examined. New methods will look for modifier genes in large families with known mutations; examine kindreds for mitochondrial DNA haplotypes; and test candidate genes, including NOS-1, NOS-3, and the serotonin transporter. This study will determine the functional mechanisms by which variations found in the BMPR2 alleles alter BMP signal transduction by defining the biochemical effects of the mutant proteins on signaling pathways. In addition, the study will examine the perceived risks and benefits of clinical genetic testing and counseling in individuals from families at high risk for PPH and will determine how this new information might be most helpful to these individuals and their families.


Ages Eligible for Study:   up to 100 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Database and specimen bank developed from 100 families affected by PPH

Inclusion Criteria:

  • Diagnosis of PPH, or family members of individuals diagnosed with PPH, for inclusion in the database and specimen bank
  Contacts and Locations
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Please refer to this study by its identifier: NCT00091546

United States, Tennessee
Vanderbilt University Medical Center
Nashville, Tennessee, United States, 37232-2650
Sponsors and Collaborators
Vanderbilt University
National Heart, Lung, and Blood Institute (NHLBI)
Study Chair: James Loyd Vanderbilt University Medical Center
  More Information

Publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: Jim Loyd, Professor, Vanderbilt University Identifier: NCT00091546     History of Changes
Other Study ID Numbers: 166
P01HL072058 ( U.S. NIH Grant/Contract )
Study First Received: September 10, 2004
Last Updated: February 1, 2016
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes

Additional relevant MeSH terms:
Lung Diseases
Hypertension, Pulmonary
Familial Primary Pulmonary Hypertension
Vascular Diseases
Cardiovascular Diseases
Respiratory Tract Diseases processed this record on September 21, 2017