NCT05550389

Brief Summary

Despite the developments in recent years, pulmonary arterial hypertension (PAH) is still a disease with high mortality and morbidity. Although studies on genetic background have increased, the pathogenesis of PAH remains complex and unresolved. The most comprehensive data are related to bone morphogenetic protein receptor type 2 (BMPR2), and in recent years, new responsible or candidate genes have been identified, especially by new generation DNA sequencing In this study, it was aimed to determine the genetic background of patients with PAH and to investigate the genetics of secondary PAH not only HPAH.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
40

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started Jun 2021

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

June 2, 2021

Completed
1.3 years until next milestone

First Submitted

Initial submission to the registry

September 19, 2022

Completed
3 days until next milestone

First Posted

Study publicly available on registry

September 22, 2022

Completed
3 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2023

Completed
2 months until next milestone

Study Completion

Last participant's last visit for all outcomes

March 1, 2023

Completed
Last Updated

September 22, 2022

Status Verified

September 1, 2022

Enrollment Period

1.6 years

First QC Date

September 19, 2022

Last Update Submit

September 19, 2022

Conditions

Pulmonary Hypertension

Keywords

geneticspulmonary hypertension

Outcome Measures

Primary Outcomes (1)

  • Genetics of Pulmonary Hypertension

    Determining the genetic background of patients with PAH and detecting genetic changes that may predispose to PAH in patients with secondary PAH other than HPAH.

    baseline

Secondary Outcomes (1)

  • The effects of mutations of Pulmonary Hypertension on disease

    baseline

Eligibility Criteria

Age1 Month - 99 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

patients with seconder PAH and HPAH followed up in pulmonary hypertension centers

You may qualify if:

  • mPAB ≥25 mmHg, pulmonary capillary wedge pressure (PCWP) ≤15 mmHg, PVR index (PVRI) ≥3 WU.m2 in right heart catheterization.

You may not qualify if:

  • Neonatal pulmonary hypertension

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Gazi University School of Medicine

Ankara, 06560, Turkey (Türkiye)

Location

Related Publications (6)

  • Deng Z, Morse JH, Slager SL, Cuervo N, Moore KJ, Venetos G, Kalachikov S, Cayanis E, Fischer SG, Barst RJ, Hodge SE, Knowles JA. Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. Am J Hum Genet. 2000 Sep;67(3):737-44. doi: 10.1086/303059. Epub 2000 Jul 20.

    PMID: 10903931BACKGROUND

  • Girerd B, Montani D, Eyries M, Yaici A, Sztrymf B, Coulet F, Sitbon O, Simonneau G, Soubrier F, Humbert M. Absence of influence of gender and BMPR2 mutation type on clinical phenotypes of pulmonary arterial hypertension. Respir Res. 2010 Jun 10;11(1):73. doi: 10.1186/1465-9921-11-73.

    PMID: 20534176BACKGROUND

  • Ma L, Roman-Campos D, Austin ED, Eyries M, Sampson KS, Soubrier F, Germain M, Tregouet DA, Borczuk A, Rosenzweig EB, Girerd B, Montani D, Humbert M, Loyd JE, Kass RS, Chung WK. A novel channelopathy in pulmonary arterial hypertension. N Engl J Med. 2013 Jul 25;369(4):351-361. doi: 10.1056/NEJMoa1211097.

    PMID: 23883380BACKGROUND

  • Gurney AM, Osipenko ON, MacMillan D, McFarlane KM, Tate RJ, Kempsill FE. Two-pore domain K channel, TASK-1, in pulmonary artery smooth muscle cells. Circ Res. 2003 Nov 14;93(10):957-64. doi: 10.1161/01.RES.0000099883.68414.61. Epub 2003 Oct 9.

    PMID: 14551239BACKGROUND

  • Machado RD, Eickelberg O, Elliott CG, Geraci MW, Hanaoka M, Loyd JE, Newman JH, Phillips JA 3rd, Soubrier F, Trembath RC, Chung WK. Genetics and genomics of pulmonary arterial hypertension. J Am Coll Cardiol. 2009 Jun 30;54(1 Suppl):S32-S42. doi: 10.1016/j.jacc.2009.04.015.

    PMID: 19555857BACKGROUND

  • Hayvaci Canbeyli F, Secgen K, Ezgu FS, Tacoy G, Unlu S, Arabaci HO, Pektas A, Inci A, Kaya EB, Sinan UY, Kucukoglu MS, Kula S. The Role of Genetics in Congenital Heart Disease-Associated Pulmonary Arterial Hypertension. Pediatr Cardiol. 2025 Apr 4. doi: 10.1007/s00246-025-03847-z. Online ahead of print.

    PMID: 40180617DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

whole blood

MeSH Terms

Conditions

Hypertension, Pulmonary

Condition Hierarchy (Ancestors)

Lung DiseasesRespiratory Tract DiseasesHypertensionVascular DiseasesCardiovascular Diseases

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Professor Doctor

Study Record Dates

First Submitted

September 19, 2022

First Posted

September 22, 2022

Study Start

June 2, 2021

Primary Completion

January 1, 2023

Study Completion

March 1, 2023

Last Updated

September 22, 2022

Record last verified: 2022-09

Locations

TU(1)