Status:
RECRUITING
Pathogenetic Basis of Aortopathy and Aortic Valve Disease
Lead Sponsor:
Indiana University
Conditions:
Aortopathies
Thoracic Aortic Aneurysm
Eligibility:
All Genders
Brief Summary
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 di...
Detailed Description
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 ...
Eligibility Criteria
Inclusion
- 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.)
Exclusion
- • Inability or unwillingness to provide consent (assent when indicated)
Key Trial Info
Start Date :
December 10 2015
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 31 2030
Estimated Enrollment :
3000 Patients enrolled
Trial Details
Trial ID
NCT03440697
Start Date
December 10 2015
End Date
December 31 2030
Last Update
April 18 2025
Active Locations (2)
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1
Childrens Healthcare of Atlanta
Atlanta, Georgia, United States, 30329
2
IU School of Medicine
Indianapolis, Indiana, United States, 46202