Lung Diseases Clinical Trial
Official title:
Genetic and Environmental Pathogenesis of PPH
Verified date | February 2016 |
Source | Vanderbilt University |
Contact | n/a |
Is FDA regulated | No |
Health authority | United States: Federal Government |
Study type | Observational |
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).
Status | Completed |
Enrollment | 3000 |
Est. completion date | July 2009 |
Est. primary completion date | July 2009 |
Accepts healthy volunteers | No |
Gender | Both |
Age group | N/A to 100 Years |
Eligibility |
Inclusion Criteria: - Diagnosis of PPH, or family members of individuals diagnosed with PPH, for inclusion in the database and specimen bank |
Observational Model: Cohort, Time Perspective: Retrospective
Country | Name | City | State |
---|---|---|---|
United States | Vanderbilt University Medical Center | Nashville | Tennessee |
Lead Sponsor | Collaborator |
---|---|
Vanderbilt University | National Heart, Lung, and Blood Institute (NHLBI) |
United States,
Cogan JD, Pauciulo MW, Batchman AP, Prince MA, Robbins IM, Hedges LK, Stanton KC, Wheeler LA, Phillips JA 3rd, Loyd JE, Nichols WC. High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension. Am J Respir Crit Care Me — View Citation
Cogan JD, Vnencak-Jones CL, Phillips JA 3rd, Lane KB, Wheeler LA, Robbins IM, Garrison G, Hedges LK, Loyd JE. Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension. Genet Med. 2005 Mar;7(3):169-74. — View Citation
Meyrick BO, Friedman DB, Billheimer DD, Cogan JD, Prince MA, Phillips JA 3rd, Loyd JE. Proteomics of transformed lymphocytes from a family with familial pulmonary arterial hypertension. Am J Respir Crit Care Med. 2008 Jan 1;177(1):99-107. Epub 2007 Oct 11. — View Citation
Newman JH, Phillips JA 3rd, Loyd JE. Narrative review: the enigma of pulmonary arterial hypertension: new insights from genetic studies. Ann Intern Med. 2008 Feb 19;148(4):278-83. Review. — View Citation
Phillips JA 3rd, Poling JS, Phillips CA, Stanton KC, Austin ED, Cogan JD, Wheeler L, Yu C, Newman JH, Dietz HC, Loyd JE. Synergistic heterozygosity for TGFbeta1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension. Genet Med. 2008 May;10(5):359-65. doi: 10.1097/GIM.0b013e318172dcdf. — View Citation
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | New development of pulmonary arterial hypertension (penetrance), age of onset, and survival | Measured through genetic analysis | No |
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