Identifying genetic factors for pulmonary arterial hypertension in congenital heart defects
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
This study is trying to find out if certain gene changes in people with congenital heart defects can lead to pulmonary arterial hypertension, to help catch and treat it earlier.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 21 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Universitaire Ziekenhuizen KU Leuven Academic / other |
| Locations | 1 site (Leuven) |
| Trial ID | NCT02691689 on ClinicalTrials.gov |
What this trial studies
This study investigates the genetic predisposition to pulmonary arterial hypertension (PAH) in patients with congenital heart defects, specifically those with atrial septal defects (ASD) or ventricular septal defects (VSD). The researchers aim to identify gene mutations that may contribute to the development of PAH, which often occurs in patients with congenital shunt lesions. By conducting genetic testing, the study seeks to uncover the relationship between specific genetic profiles and the severity of PAH, potentially leading to earlier detection and intervention. The ultimate goal is to improve patient outcomes through targeted prevention and treatment strategies.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with secundum atrial septal defect or ventricular septal defect, who have developed PAH.
Not a fit: Patients with other congenital heart diseases, chronic lung diseases, or those with a history of pulmonary embolism may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enable earlier detection and management of pulmonary arterial hypertension in at-risk patients, improving their quality of life and survival rates.
How similar studies have performed: While genetic links between congenital heart defects and pulmonary arterial hypertension are not extensively studied, emerging evidence suggests potential success in identifying genetic factors in similar contexts.
Eligibility criteria
Show full inclusion / exclusion 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 (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
Where this trial is running
Leuven
- University Hospitals Leuven — Leuven, Belgium (Recruiting)
Study contacts
- Principal investigator: Werner Budts, MD, PhD — Universitaire Ziekenhuizen KU Leuven
- Study coordinator: Werner Budts, MD, PhD
- Email: werner.budts@uzleuven.be
- Phone: +32 16 344369
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.