Clinical trials: Aortopathies
Familial Aortopathies
Familial Aortopathies and Cellular Exploration
The prevalence of hereditary aortic disease (HTAD), responsible for aneurysm or dissection, is estimated at 25%. Mutations in the ACTA2 gene represent the main cause of non-syndromic forms (10-21%).
- Trial name
- FACE (NCT05401500)
- Testing
- blood sample
- Where
- France
- Volunteers
- 3 people
- Sponsor
- Assistance Publique Hopitaux De Marseille
Magnetic Resonance Imaging, Pregnancy
Non-contrast 3D MR Angiography for Assessment of the Thoracic Aorta in Pregnancy
Introduction: Native magnetic resonance angiography (MRA) is recommended to assess the thoracic aorta during pregnancy, avoiding the risks of ionising radiation and contrast agent administration.
- Trial name
- NCT02793570
- Testing
- observational
- Where
- United Kingdom
- Volunteers
- 15 people
- Sponsor
- University Hospital Birmingham NHS Foundation Trust
Marfan Syndrome, FBN1 Mutation
Genome-wide Epistasis for Cardiovascular Severity in Marfan Study
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with pleiotropic manifestations in the ocular, skeletal and cardiovascular systems.
- Trial name
- GEMS (NCT06257004)
- Testing
- Saliva collection (screening of all participants), Bloodsampling
- Where
- Belgium
- Volunteers
- 200 people
- Sponsor
- University Hospital, Antwerp
Rare Diseases, Aortic Stiffness
Aortic Stiffness in Patients With Genetic Aortopathies
The goal of this observational study is to study arterial stiffness in patients with thoracic ascending aortic aneurysms (TAA), either syndromic or non-syndromic.
- Conditions
- Rare Diseases, Aortic Stiffness, Connective Tissue Defect
- Trial name
- PULSEWAVE (NCT05715203)
- Testing
- Pulsotonometry
- Where
- Italy
- Volunteers
- 250 people
- Sponsor
- IRCCS Policlinico S. Donato
Aortopathies, Thoracic Aortic Aneurysm
Pathogenetic Basis of Aortopathy and Aortic Valve Disease
The main purpose of this study is to define the complex genetic and pathogenic basis of thoracic aortic aneurysm (TAA) and other forms of aortopathy and/or aortic valve disease by identifying novel disease-causing genes and by…
- Conditions
- Aortopathies, Thoracic Aortic Aneurysm, Aortic Valve Disease, Thoracic Aortic Disease
- Trial name
- TAA (NCT03440697)
- Where
- 2 sites in United States
- Volunteers
- 3,000 people
- Sponsor
- Yale University