Pathogenetic Basis of Aortopathy and Aortic Valve Disease

Running, not enrolling

Conditions studied: Aortopathies, Thoracic Aortic Aneurysm, Aortic Valve Disease, Thoracic Aortic Disease, Thoracic Aortic Dissection, Thoracic Aortic Rupture, Ascending Aortic Disease, Descending Aortic Disease, Ascending Aortic Aneurysm, Descending Aortic Aneurysm, Marfan Syndrome, Loeys-Dietz Syndrome, Vascular Ehlers-Danlos Syndrome, Shprintzen-Goldberg Syndrome, Turner Syndrome, PHACE Syndrome, Autosomal Recessive Cutis Laxa, Congenital Contractural Arachnodactyly, Arterial Tortuosity Syndrome, Bicuspid Aortic Valve-Associated Aortopathy, Bicuspid Aortic Valve, Familial Thoracic Aortic Aneurysm and Aortic Dissection

In brief

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.

Key facts

Study ID

NCT03440697

Run by

Yale University

People needed

3000

Starts

2015-12-10

Expected to finish

2030-12-31

Last updated by the study team

2026-02-13

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Open to external enrollment:
• Subjects with a genetic diagnosis of Marfan Syndrome (MDS), Loeys-Dietz Syndrome (LDS), or Vascular Ehlers-Danlos Syndrome (EDS); (Positive genetic testing or a previous cardiac study required to be eligible)
• Family members of eligible subjects (Only family members of subjects with syndromic diagnoses are eligible for external enrollment at this time)
• Closed to external enrollment:
• 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 aortic valve disease (bicuspid, unicuspid, or tricuspid disease)
• Control subjects having tissue removed during a surgical procedure (e.g. coronary artery bypass graft surgery (CABG), cardiac transplant, etc.)

You may not qualify if…

• Inability or unwillingness to provide consent (assent when indicated)

Where it is running

• Childrens Healthcare of Atlanta — Atlanta, Georgia, United States
• IU School of Medicine — Indianapolis, Indiana, United States

Full record on ClinicalTrials.gov

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