An observational study in Aortopathies, Thoracic Aortic Aneurysm and Aortic Valve Disease, sponsored by Yale University. Active, not recruiting at 2 sites in United States. Per ClinicalTrials.gov, last updated 2026-02-13.
Sponsored by Yale University · Observational
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 identifying important genetic modifiers for aortic and aortic valve disease severity.
Thoracic aortic aneurysm (TAA) is a type of aortopathy describing dilation of the proximal aortic dimensions including the aortic root, which is a risk factor for aortic dissection and sudden cardiac death. TAA and other forms of aortopathy (e.g. aortic tortuosity or aortic hypoplasia/stenosis) develop in the presence or absence of additional cardiovascular malformations including bicuspid aortic valve. TAA is associated with connective tissue disorders (e.g. Marfan syndrome), and familial clustering has been identified in a significant proportion of nonsyndromic cases, establishing high heritability. Pedigree analysis of TAA kindreds clearly identifies complex inheritance; however, progress towards understanding the genetic basis of TAA and other forms of aortopathy and, ultimately, the susceptibility to aortic dissection remains incomplete. There is a clinical need to develop novel methods for predicting disease risk based on genotype and phenotype, to further elucidate the genetic and pathogenic mechanisms of aortopathy, and to improve medical and surgical therapies. The overarching hypothesis of this study is that individual genetic variation modulates susceptibility to disease severity and progression. The goals of this study are 1) to ascertain a cohort of subjects who have aortopathy and/or aortic valve disease including TAA or who have genetic risk for the development of aortopathy and/or aortic valve disease, 2) to collect paired blood and tissue samples from well-characterized subjects, family members of subjects, and controls to perform genome-wide DNA sequence, histopathologic, transcriptional, and proteomic analyses, and 3) to establish a tissue biorepository with detailed phenotype information to facilitate a broad spectrum of current and future studies.
22 studies on the registry are indexed under Aneurysm, Ascending Aorta; 11 are open to participants now.
This study's planned enrollment of 3,000 is above the median of 126 across 10 observational studies indexed under Aneurysm, Ascending Aorta.
Browse Aneurysm, Ascending Aorta studies →Yale University is the lead sponsor of 1,770 studies on the registry; 294 are open to participants now.
Of its 221 completed or terminated interventional studies of FDA-regulated products, 129 (58%) have results posted.
Compared within Aneurysm, Ascending Aorta, this study's primary condition as ClinicalTrials.gg classifies it; the registry's first condition term is Aortic Aneurysm, Thoracic. The counts are of registry records indexed under each term, refreshed daily. How we classify →
Families affected by aortopathy, aortic valve disease, or syndromic or genetic diagnosis that poses risk for the development of aortic disease who have not yet developed disease.
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Open to external enrollment:
Closed to external enrollment:
Exclusion Criteria:
Subjects with aortic disease including TAA or dissection, aortic tortuosity, or aortic hypoplasia/stenosis (based on any cardiac imaging modality including echocardiography, CT, MRI, or angiography)
Subjects with a genetic diagnosis of Marfan Syndrome (MFS), Loeys-Dietz Syndrome (LDS), Vascular Ehlers-Danlos Syndrome (EDS) •positive genetic testing and/or a previous cardiac study required to be eligible
Subjects with aortic disease including TAA or dissection, aortic tortuosity, or aortic hypoplasia/stenosis (based on any cardiac imaging modality including echocardiography, CT, MRI, or angiography) who also have positive genetic testing results related to aortopathy.
Subjects with aortic valve disease (bicuspid, unicuspid, or tricuspid disease)
Family members of eligible subjects •Only family members of subjects with syndromic diagnoses are eligible for external enrollment at this time
Control subjects having tissue removed during a surgical procedure (e.g. coronary artery bypass graft surgery (CABG), cardiac transplant, etc.)
Biorepository Establishment
Establish a biorepository with detailed phenotype information to facilitate a broad spectrum of current and future studies
Time frame: 20 years
Genetic Analysis
The mechanisms of TAA pathogenesis will be determined by studying explanted aortic tissue and cells derived from patients with TAA for gene expression, protein expression, and other functional assays.
Time frame: 20 years
Plan to share: No
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This study is active, not recruiting, as verified in Feb 2026. You cannot join it, but the record below documents what was studied.
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