Genetics of Pulmonary Hypertension

NCT ID: NCT05550389

Last Updated: 2022-09-22

Basic Information

• Recruitment Status: UNKNOWN
• Total Enrollment: 40 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2021-06-02
• Study Completion Date: 2023-03-31

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.

Detailed Description

In our study, changes in BMPR2, SARS2, KRT8, KRT18, SMAD9, CAV1, KCKN3, CPS1, TBX4, ACVRL1, G6PC3, EIF2AK4 and ENG genes will be screened in patients with PAH. In addition to previously reported changes in the relevant genes, previously unreported changes that are likely to be significant according to insilico methods are presented.

Patients' age, gender, mean follow-up time, underlying congenital heart anomalies, 6-minute walk test (6 MWT), proBNP, catheter measurement values (mPAB, m RAB, Rp/Rs, PVR), vasoreactivity test positivity, World health organization functional classification (WHO-FS), cardiac function measurements by echocardiography, treatments they received will be collected retrospectively.

Conditions

Pulmonary Hypertension

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Eligibility Criteria

Inclusion Criteria

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

Exclusion Criteria

• Neonatal pulmonary hypertension

• Minimum Eligible Age: 1 Month
• Maximum Eligible Age: 99 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

ADHAD

UNKNOWN

Sponsor Role: collaborator

Gazi University

OTHER

Sponsor Role: lead

Responsible Party

Serdar Kula

Professor Doctor

Responsibility Role: PRINCIPAL_INVESTIGATOR

Locations

Gazi University School of Medicine

Ankara, , Turkey (Türkiye)

Countries

Turkey (Türkiye)

References

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.

Reference Type: BACKGROUND

PMID: 10903931 (View on PubMed)

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.

Reference Type: BACKGROUND

PMID: 20534176 (View on PubMed)

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.

Reference Type: BACKGROUND

PMID: 23883380 (View on PubMed)

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.

Reference Type: BACKGROUND

PMID: 14551239 (View on PubMed)

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.

Reference Type: BACKGROUND

PMID: 19555857 (View on PubMed)

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.

Reference Type: DERIVED

PMID: 40180617 (View on PubMed)

Other Identifiers

gazi23.12.2019/276

Identifier Type: -

Identifier Source: org_study_id