Could a simple blood test predict lung danger in heart defect patients?
NCT ID NCT02691689
First seen Jun 24, 2026 · Last updated Jun 27, 2026 · Updated 2 times
Summary
This study aims to find genes that make some people with congenital heart defects develop a serious lung condition called pulmonary arterial hypertension (PAH). Researchers will analyze DNA from blood samples of 21 patients with heart defects who also have PAH. The goal is to identify genetic mutations that could help predict and prevent PAH in the future.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- Active substance
- Genetic testing (DNA sequencing on blood samples)
- What this could lead to
- If successful, this could lead to a genetic screening tool to identify heart defect patients at risk for pulmonary hypertension, enabling earlier monitoring or prevention.
- What could go wrong
- This is a small pilot study with only 21 participants, so findings may not apply to everyone. It is exploratory and may not identify clear genetic links.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Phase
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Not a phased trial
Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.
- Participants
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About 21 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Nov 2015
- Expected to finish
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Feb 2027
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
- Ages
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18 years and older
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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University Hospitals Leuven
RECRUITINGLeuven, 3000, Belgium
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