Heart Defects, CongenitalNCT02691689
Genes Associated With Development of Pulmonary Arterial Hypertension in Patients With Congenital Shunt Lesions
A study testing Genetic testing in people with Heart Defects, Congenital and Pulmonary Arterial Hypertension, run by Universitaire Ziekenhuizen KU Leuven at 1 site in Belgium.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Heart Defects, Congenital, Pulmonary Arterial Hypertension, Genetic Testing
- What is being tested?
- Genetic testing
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 21 participants
- Where
- 1 siteBelgium
- Study dates
- Nov 2015to Feb 2027
- Phase
- Interventional
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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
Who cannot join
- Other congenital heart disease
- Mental retardation
- Dysmorphic characteristics
- Chronic lung disease or total lung capacity < 80% of predicted value
- History of pulmonary embolism
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Belgium1 site, 1 recruiting
- Recruiting
University Hospitals Leuven
Leuven, 3000
Werner Budts, MD, PhD, +32 16 344369, werner.budts@uzleuven.be
Charlien Gabriels, MD, +32 16 341486, charlien.gabriels@uzleuven.be
About this study
Official title: 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
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.
Read the detailed description
Pulmonary arterial hypertension (PAH) in patients with congenital heart disease (CHD) usually develops secondary to chronic volume overload of the pulmonary circulation following left to right shunt. This overload leads to elevated pulmonary artery pressure (PAP) and later to increased pulmonary vascular resistance. This causes pressure overload in the right heart, and thereby right ventricular and right atrial dysfunction, which may implicate considerable morbidity and even mortality.
Since PAH nowadays is mostly detected when symptoms occur and PAP are elevated, the disease already evolved to an advanced (partially irreversible) stage and treatment is often initiated too late.
Next to environmental risk factors, the investigators believe that there is an important role of genetic predisposition to develop PAH in CHD. In the past, certain genes have been identified that play a role in the development of atrial septal defect (ASD). There are also a lot of genes identified that play a role in PAH. Until now, not many research groups have studied a genetic link between CHD and PAH development. But it becomes more and more clear that 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 mutations in some of these known PAH genes or in other, still unidentified, genes are 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.
- Being tested
- Genetic testing
- Medical subject headings
- Heart Defects, Congenital, Pulmonary Arterial Hypertension
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genetic testingOther
Genetic testing by DNA sequencing on blood samples after DNA extraction
| Study group | Role | What they receive |
|---|---|---|
| Patients with ASD or VSD and PAH | Other | Not described Receives: Other: Genetic testing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Presence of pathogenic mutations in PAH or ASD genes
- In a first step, known PAH genes (BMPR2, ALK1 and endoglin) will be screened for mutations.
- In a second step, known ASD genes will be screened.
- If step 1 and 2 remain negative, exome sequencing will be performed.
Measured: 18 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Feb 2016 (estimated)
- Study startNov 2015
- Primary completionFeb 2027 (estimated)
- Study completionFeb 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Heart Defects, CongenitalStudies of the same condition, open and under way.
- More trials run by Universitaire Ziekenhuizen KU LeuvenThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 21 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Universitaire Ziekenhuizen KU Leuven
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, prof. dr. Werner Budts, Universitaire Ziekenhuizen KU Leuven
- Investigators
- Werner Budts, MD, PhD, Principal investigator, Universitaire Ziekenhuizen KU Leuven
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02691689
- Sponsor's protocol ID
- S57936
- Status last verified
- Apr 2026
- First submitted
- 17 Feb 2016
- Last updated
- 29 Apr 2026
- Results posted
- No