Actively Recruiting
Prospective Monocentric Pilot Study to Identify Genes Linked to Pulmonary Arterial Hypertension in Patients With Congenital Shunt Lesions
Led by Universitaire Ziekenhuizen KU Leuven · Updated on 2026-04-29
21
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
This research aims to explore the genetic factors linked to pulmonary arterial hypertension (PAH) in patients with congenital heart disease (CHD), particularly those with congenital shunt lesions such as atrial septal defect (ASD) or ventricular septal defect (VSD). PAH in these patients arises due to chronic volume overload in the lungs, leading to increased pressure and resistance in pulmonary arteries. The study investigates how genetic predisposition might explain why some patients develop PAH while others do not, with the goal of improving early detection and prevention strategies. Participants will undergo genetic testing involving DNA sequencing from blood samples to identify known or new gene mutations associated with PAH or ASD. The study is prospective and conducted at a single center, focusing on patients diagnosed with ASD or VSD who have developed PAH. Preferably, families with multiple affected members will be included to better understand hereditary patterns. During the study, researchers will assess the presence of pathogenic mutations in PAH or ASD genes over an 18-month period. Participants' pulmonary artery pressures and vascular resistance will be evaluated through right heart catheterization to confirm PAH. The study involves monitoring genetic markers and clinical measurements to better understand the link between genes and disease development, aiming to provide insights that could lead to earlier diagnosis and intervention. Total participation duration varies but includes comprehensive genetic and clinical assessments.
CONDITIONS
Brief Title
Genes Associated With Development of Pulmonary Arterial Hypertension in Patients With Congenital Shunt Lesions
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Previous diagnosis of secundum atrial septal defect (ASD) or ventricular septal defect (VSD), with or without repair
- Development of pulmonary arterial hypertension (PAH) confirmed by right heart catheterization showing mean pulmonary artery pressure 25 mmHg, pulmonary wedge pressure 4 mmHg, and pulmonary vascular resistance > 3 Wood units
- Preferably, families with congenital shunt lesions involving at least three affected family members with ASD or VSD
- Age 18 years or older
You will not qualify if you...
- Presence of other congenital heart diseases
- Mental retardation
- Dysmorphic characteristics
- Chronic lung disease or total lung capacity less than 80% of predicted value
- History of pulmonary embolism
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Duration - Up to 18 months
Participants undergo genetic testing by DNA sequencing on blood samples to identify gene mutations linked to pulmonary arterial hypertension and congenital shunt lesions.
1 or more visits for blood sample collection
Trial Site Locations
Total: 1 location
1
University Hospitals Leuven
Leuven, Belgium, 3000
Actively Recruiting
Research Team
W
Werner Budts, MD, PhD
C
Charlien Gabriels, MD
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
DIAGNOSTIC
Number of Arms
1
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