NCT02691689Recruiting
Genes Associated With Development of Pulmonary Arterial Hypertension in Patients With Congenital Shunt Lesions
Prospective, Monocentric Pilot Study for the Identification of Known or Novel Genes Associated With Development of Pulmonary Arterial Hypertension in Patients With Congenital Shunt Lesions
Source: ClinicalTrials.gov · Last updated 29 Apr 2026
Brief summary (registry, in English)
Pulmonary arterial hypertension (PAH) in patients with congenital heart disease (CHD) is associated with considerable morbidity and even mortality. Next to environmental risk factors, the investigators believe that there is an important role of genetic predisposition to develop PAH in CHD. There often is a discrepancy between the severity of PAH and the CHD, where it is useful to screen for PAH gene mutations. The investigators hypothesize that the genotype is partly responsible for the phenotypic variability in patients with congenital shunt lesions, where some develop PAH and others do not. If a genetic predisposition for PAH in CHD could be identified, then genetic screening could be a useful additional tool for early detection of patients at risk of pulmonary vascular disease and PAH development, with new opportunities for prevention or early treatment.
- Status (registry)
- Recruiting
- Study type
- Interventional
- Enrollment
- 21 (estimated)
- First submitted
- 17 Feb 2016
- Start date
- Nov 2015
- Primary completion date
- Feb 2027
- Lead sponsor
- Universitaire Ziekenhuizen KU Leuven
- NCT number
- NCT02691689
What you commit to
- Study type: Interventional
- Planned participants: 21
- From Nov 2015 to the primary completion date, Feb 2027
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other illness
- Other congenital heart disease
- Chronic lung disease or total lung capacity \< 80% of predicted value
- History of pulmonary embolism
Other
- Mental retardation
- Dysmorphic characteristics
Who the study is looking for
- Previous diagnosis of secundum atrial septal defect (ASD) or ventricular septal defect (VSD), with or without repair
- Development of PAH, defined as mean PAP ≥ 25 mmHg by right heart catheterization, in combination with a pulmonary wedge pressure of ≤ 15 mmHg and a PVR (pulmonary vascular resistance) of \> 3 Wood units
- Preferably, families with congenital shunt lesions (at least three family members affected with ASD or VSD) will be considered for inclusion
Age in the registry: 18 years to - · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| University Hospitals Leuven Coordinator of this site? Confirm its status | Leuven | Belgium | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.