Genetics of Pulmonary Hypertension

Study Purpose

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.

Recruitment Criteria

Accepts Healthy Volunteers

Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms

No
Study Type

An interventional clinical study is where participants are assigned to receive one or more interventions (or no intervention) so that researchers can evaluate the effects of the interventions on biomedical or health-related outcomes.


An observational clinical study is where participants identified as belonging to study groups are assessed for biomedical or health outcomes.


Searching Both is inclusive of interventional and observational studies.

Observational
Eligible Ages 1 Month - 99 Years
Gender All
More Inclusion & Exclusion 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

Trial Details

Trial ID:

This trial id was obtained from ClinicalTrials.gov, a service of the U.S. National Institutes of Health, providing information on publicly and privately supported clinical studies of human participants with locations in all 50 States and in 196 countries.

NCT05550389
Phase

Phase 1: Studies that emphasize safety and how the drug is metabolized and excreted in humans.

Phase 2: Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition) and additional safety data.

Phase 3: Studies that gather more information about safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs.

Phase 4: Studies occurring after FDA has approved a drug for marketing, efficacy, or optimal use.

Lead Sponsor

The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data.

Gazi University
Principal Investigator

The person who is responsible for the scientific and technical direction of the entire clinical study.

N/A
Principal Investigator Affiliation N/A
Agency Class

Category of organization(s) involved as sponsor (and collaborator) supporting the trial.

Other
Overall Status Enrolling by invitation
Countries Turkey
Conditions

The disease, disorder, syndrome, illness, or injury that is being studied.

Pulmonary Hypertension
Additional Details

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.

Contact a Trial Team

If you are interested in learning more about this trial, find the trial site nearest to your location and contact the site coordinator via email or phone. We also strongly recommend that you consult with your healthcare provider about the trials that may interest you and refer to our terms of service below.

International Sites

Gazi University School of Medicine, Ankara, Turkey

Status

Address

Gazi University School of Medicine

Ankara, , 06560

For more information, please contact PHA at Research@PHAssociation.org and refer to the terms of service below.

Submit Feedback

The content provided on clinical trials is for informational purposes only and is not a substitute for medical consultation with your healthcare provider. We do not recommend or endorse any specific study and you are advised to discuss the information shown with your healthcare provider. While we believe the information presented on this website to be accurate at the time of writing, we do not guarantee that its contents are correct, complete, or applicable to any particular individual situation. We strongly encourage individuals to seek out appropriate medical advice and treatment from their physicians. We cannot guarantee the availability of any clinical trial listed and will not be responsible if you are considered ineligible to participate in a given clinical trial. We are also not liable for any injury arising as a result of participation in a clinical trial or study.