- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT02691689
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
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.
Study Overview
Status
Intervention / Treatment
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.
Study Type
Enrollment (Anticipated)
Phase
- Not Applicable
Contacts and Locations
Study Contact
- Name: Werner Budts, MD, PhD
- Phone Number: +32 16 344369
- Email: werner.budts@uzleuven.be
Study Contact Backup
- Name: Charlien Gabriels, MD
- Phone Number: +32 16 341486
- Email: charlien.gabriels@uzleuven.be
Study Locations
-
-
-
Leuven, Belgium, 3000
- Recruiting
- University Hospitals Leuven
-
Contact:
- Werner Budts, MD, PhD
- Phone Number: +32 16 344369
- Email: werner.budts@uzleuven.be
-
Contact:
- Charlien Gabriels, MD
- Phone Number: +32 16 341486
- Email: charlien.gabriels@uzleuven.be
-
Sub-Investigator:
- Charlien Gabriels, MD
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Description
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
Study Plan
How is the study designed?
Design Details
- Primary Purpose: Diagnostic
- Allocation: N/A
- Interventional Model: Single Group Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
---|---|
Other: Patients with ASD or VSD and PAH
|
Genetic testing by DNA sequencing on blood samples after DNA extraction
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Presence of pathogenic mutations in PAH or ASD genes
Time Frame: 18 months
|
|
18 months
|
Collaborators and Investigators
Investigators
- Principal Investigator: Werner Budts, MD, PhD, Universitaire Ziekenhuizen KU Leuven
Study record dates
Study Major Dates
Study Start
Primary Completion (Anticipated)
Study Completion (Anticipated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- S57936
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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