Ignite Creation Date:
2024-05-05 @ 10:13 PM
Last Modification Date:
2024-10-26 @ 10:15 AM
Study NCT ID:
NCT01054105
Status:
COMPLETED
Last Update Posted:
2018-12-27
First Post:
2010-01-21
Brief Title:
Effect of BMPR-2 Gene Mutations on Hemodynamic Response by Iloprost Inhalation in Pulmonary Arterial Hypertension
Sponsor:
Gachon University Gil Medical Center
Organization:
Gachon University Gil Medical Center
Study Overview
Official Title:
The Prevalence of BMPR-2 Gene Mutations in Korean Patients With Pulmonary Arterial Hypertension PAH and the Effects of Gene Mutations on Hemodynamic Response by Drug Therapy
Status:
COMPLETED
Status Verified Date:
2018-12
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:
PILGRIM
Brief Summary:
In the present study the investigators want to investigate the prevalence of BMPR-2 gene mutations in the Korean PAH patients Step-I and to test that the PAH patients treated with iloprost inhalation solution Ventavis would show hemodynamic response especially assessed by exercise echocardiography Step-II
Detailed Description:
Pulmonary arterial hypertension PAH consists of a group of vascular abnormalities with elevated pulmonary arterial pressure and pulmonary vascular resistance Idiopathic or familial PAH is progressive over several years and believed to be fatal without treatment 1-2 The results of the Endothelin Antagonist tRial in mildly symptomatic PAH EARLY indicate that early diagnosis and treatment of PAH might improve time to clinical worsening and emphasize that PAH needs to be diagnosed and treated in the early stages 3 Germline mutations of bone morphogenetic protein receptor BMPR-2 a member of the transforming growth factor TGF-β superfamily have been found in familial and sporadic forms of idiopathic PAH4-6 and in appetite-suppressant PAH7 The BMPR-2 gene on chromosome 2q33 has 13 exons Exons 1-3 encode an extracellular domain exon 4 encodes the transmembrane domain exons 5-11 a serinethreonine kinase domain and exons 12 and 13 a very large intracellular C-terminus of unknown function that appears to be unique to BMPR-2 8 Mutations in familial PAH have been reported in all exons except for 5 and 13 9 About 10-25 of sporadic cases of idiopathic PAH are thought to have BMPR-2 mutations 10 and rare cases of PAH associated with congenital heart disease connective tissue disease and drug induced PAH were reported 11-12 It is likely that genetic predispositions exist based on normal variations in genes that may influence the pulmonary circulation However the studies regarding prevalence of BMPR-2 gene mutations in Korean patients have not been performed
In a previous study family members of familial PAH patients showed an increased pulmonary artery systolic pressure PASP rise during exercise as assessed by echocardiography 13-14 In other study relatives of idiopathicfamilial PAH patients displayed enhanced frequency of pulmonary hypertensive response during exercise and that this response is associated with mutations in the BMPR-2 gene 15 These results suggest that asymptomatic gene carriers in the absence of manifest pulmonary hypertension might have enhanced PASP during exercise and more risk to develop resting pulmonary hypertension in the future compared with patients without gene mutations Therefore the treatment response by variable vasodilators ex calcium channel blockers endothelin antagonist or prostacyclin analogues may be different based on the presence of BMPR-2 gene In the present study we want to investigate the prevalence of BMPR-2 gene mutations in the Korean PAH patientsStep-I and to test that the PAH patients treated with iloprost inhalation solution Ventavis would show hemodynamic response especially assessed by exercise echocardiography Step-II
In a previous study family members of familial PAH patients showed an increased pulmonary artery systolic pressure PASP rise during exercise as assessed by echocardiography 13-14 In other study relatives of idiopathicfamilial PAH patients displayed enhanced frequency of pulmonary hypertensive response during exercise and that this response is associated with mutations in the BMPR-2 gene 15 These results suggest that asymptomatic gene carriers in the absence of manifest pulmonary hypertension might have enhanced PASP during exercise and more risk to develop resting pulmonary hypertension in the future compared with patients without gene mutations Therefore the treatment response by variable vasodilators ex calcium channel blockers endothelin antagonist or prostacyclin analogues may be different based on the presence of BMPR-2 gene In the present study we want to investigate the prevalence of BMPR-2 gene mutations in the Korean PAH patientsStep-I and to test that the PAH patients treated with iloprost inhalation solution Ventavis would show hemodynamic response especially assessed by exercise echocardiography Step-II
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 |
|---|---|---|---|
| GIRBA 2278 | OTHER | Gachon University Gil Hospital IRB | None |