Ignite Creation Date:
2024-05-06 @ 8:15 AM
Last Modification Date:
2024-10-26 @ 11:57 AM
Study NCT ID:
NCT02691689
Status:
RECRUITING
Last Update Posted:
2023-05-09
First Post:
2016-02-17
Brief Title:
Genes Associated With Development of Pulmonary Arterial Hypertension in Patients With Congenital Shunt Lesions
Sponsor:
Universitaire Ziekenhuizen KU Leuven
Organization:
Universitaire Ziekenhuizen KU Leuven
Study Overview
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
Status:
RECRUITING
Status Verified Date:
2023-05
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief 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 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
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
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
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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None