Pathogenetic Basis of Aortopathy and Aortic Valve Disease (NCT03440697) | Clinical Trial Compass
Active — Not RecruitingNot Applicable
Pathogenetic Basis of Aortopathy and Aortic Valve Disease
United States3,000 participantsStarted 2015-12-10
Plain-language 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 disease-causing genes and by identifying important genetic modifiers for aortic and aortic valve disease severity.
Who can participate
SexALL
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Inclusion Criteria:
* 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 Criteria:
• Inability or unwillingness to provide consent (assent when indicated)