Genetic Overview of Pulmonary Hypertension
试验速览
- 阶段
- 不适用
- 状态
- Enrolling By Invitation
- 入组人数
- 40
- 试验地点
- 1
- 主要终点
- Genetics of Pulmonary Hypertension
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 1 Month 至 99 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •mPAB ≥25 mmHg, pulmonary capillary wedge pressure (PCWP) ≤15 mmHg, PVR index (PVRI) ≥3 WU.m2 in right heart catheterization.
排除标准
- •Neonatal pulmonary hypertension
结局指标
主要结局
Genetics of Pulmonary Hypertension
时间窗: 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.
次要结局
- The effects of mutations of Pulmonary Hypertension on disease(baseline)
研究者
Serdar Kula
Professor Doctor
Gazi University