Ignite Creation Date:
2024-05-05 @ 11:37 AM
Last Modification Date:
2024-10-26 @ 9:10 AM
Study NCT ID:
NCT00091546
Status:
COMPLETED
Last Update Posted:
2016-02-02
First Post:
2004-09-10
Brief Title:
Genetic and Environmental Characteristics of Primary Pulmonary Hypertension
Sponsor:
Vanderbilt University
Organization:
Vanderbilt University
Study Overview
Official Title:
Genetic and Environmental Pathogenesis of PPH
Status:
COMPLETED
Status Verified Date:
2016-02
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
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
Detailed Description:
BACKGROUND
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
DESIGN NARRATIVE
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
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
DESIGN NARRATIVE
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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| P01HL072058 | NIH | None | httpsreporternihgovquickSearchP01HL072058 |