Clinical trial NCT05550389: Genetics of Pulmonary Hypertension
Official title: Genetic Overview of Pulmonary Hypertension
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Pulmonary Hypertension
Keywords: genetics
pulmonary hypertension
Lead sponsor: Gazi University
Sponsor class: OTHER
Collaborators: name: ADHAD
First posted: 2022-09-22
Enrollment: 40
Sex: ALL
Minimum age (years): 1
Maximum age (years): 99
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: patients with seconder PAH and HPAH followed up in pulmonary hypertension centers

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.

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

Primary outcomes:
measure: Genetics of Pulmonary Hypertension
timeFrame: baseline
Secondary outcomes:
measure: The effects of mutations of Pulmonary Hypertension on disease
timeFrame: baseline
Other outcomes:
Locations:
city: Ankara
country: Turkey
facility: Gazi University School of Medicine
Study officials:
References:
citation: 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.
citation: 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.
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citation: 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.
citation: 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.