Genetics of Pulmonary Hypertension

• Conditions: Pulmonary Hypertension

• Registration Number: NCT05550389
• Lead Sponsor: Gazi University

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.

Study Timeline

• Study Start: 2021-06-02
• Status Verified: 2022-09
• Study First Submitted: 2022-09-19
• Study First Submitted QC: 2022-09-19
• Last Update Submitted: 2022-09-19
• Study First Posted: 2022-09-22
• Last Update Posted: 2022-09-22
• Primary Completion: 2023-01
• Study Completion: 2023-03

Recruitment & Eligibility

• Status: ENROLLING_BY_INVITATION
• Sex: All
• Target Recruitment: 40

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Genetics of Pulmonary Hypertension	baseline	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.

Secondary Outcome Measures

Name	Time	Method
The effects of mutations of Pulmonary Hypertension on disease	baseline	The effects of the detected mutations on the age of onset of the disease, the course of the disease and the response to treatment will be evaluated.

Trial Locations

Locations (1)

Gazi University School of Medicine; 🇹🇷 Ankara, Turkey