No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
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At a Glance
Age
18 and older
Sex
Any
Study type
Interventional
Purpose
Diagnostic
Participants needed
21 (estimated)
Sponsor
Universitaire Ziekenhuizen KU Leuven · Other
Who this trial is looking for
This trial is looking for people with specific heart defects and pulmonary arterial hypertension (PAH). Participants will be tested for genetic factors that may influence their condition.
Are You a Good Fit for This Trial?
You may be able to join if
I have been diagnosed with atrial septal defect (ASD) or ventricular septal defect (VSD).
I have developed pulmonary arterial hypertension (PAH).
I have family members affected by ASD or VSD.
You may not be able to join if
I have other congenital heart disease.
I have a history of mental retardation.
I have dysmorphic characteristics.
I have chronic lung disease or reduced lung capacity.
I have had a pulmonary embolism.
Summarized in plain language from this trial's official eligibility criteria.
The full criteria are further down this page — only the research team can
confirm whether you qualify.
Think this trial could be right for you?
Answer a few quick questions to see if you may meet the eligibility requirements.
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 g…
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.
Trial Locations
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Eligibility Criteria
Inclusion Criteria:
* 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 (pulmo…
Inclusion Criteria:
* 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
Exclusion Criteria:
* Other congenital heart disease
* Mental retardation
* Dysmorphic characteristics
* Chronic lung disease or total lung capacity \< 80% of predicted value
* History of pulmonary embolism
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