NCT05550389

Genetics of Pulmonary Hypertension

Genetic Overview of Pulmonary Hypertension

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 40 (estimated)
• Sponsor: Gazi University · Academic / Other
• Sex: All
• Age: 1 Month – 99 Years
• Healthy volunteers: Not accepted

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

Timeline

• Start date: 2021-06-02
• Primary completion: 2023-01-01
• Completion: 2023-03-01
• First posted: 2022-09-22
• Last updated: 2022-09-22

Locations

1 site across 1 country: Turkey (Türkiye)