Understanding the genetic causes of aortic diseases
Pathogenetic Basis of Aortopathy and Aortic Valve Disease
This study is trying to find out how genes affect aortic diseases, like thoracic aortic aneurysm, by looking at people with these conditions and their families to better understand risks and progression.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 3000 (estimated) |
| Sex | All |
| Sponsor | Indiana University Academic / other |
| Locations | 2 sites (Atlanta, Georgia and 1 other locations) |
| Trial ID | NCT03440697 on ClinicalTrials.gov |
What this trial studies
This study aims to explore the genetic and pathogenic factors contributing to thoracic aortic aneurysm (TAA) and other aortic diseases. By identifying novel disease-causing genes and genetic modifiers, the research seeks to enhance understanding of disease severity and progression. Participants will include individuals with specific genetic diagnoses related to aortopathy, as well as their family members. Blood and tissue samples will be collected to facilitate genetic analysis and improve risk prediction for aortic conditions.
Who should consider this trial
Good fit: Ideal candidates include individuals with a genetic diagnosis of Marfan Syndrome, Loeys-Dietz Syndrome, or Vascular Ehlers-Danlos Syndrome, as well as their family members.
Not a fit: Patients without a genetic diagnosis related to aortopathy or those with unrelated aortic diseases may not benefit from this study.
Why it matters
Potential benefit: If successful, this research could lead to better prediction and management of aortic diseases, potentially reducing the risk of life-threatening complications.
How similar studies have performed: Other studies have shown promise in understanding genetic factors in aortic diseases, but this approach may provide novel insights into the specific genetic modifiers involved.
Eligibility criteria
Show full inclusion / exclusion criteria
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)
Where this trial is running
Atlanta, Georgia and 1 other locations
- Childrens Healthcare of Atlanta — Atlanta, Georgia, United States (Not_yet_recruiting)
- IU School of Medicine — Indianapolis, Indiana, United States (Recruiting)
Study contacts
- Principal investigator: Benjamin Landis, MD — IU School of Medicine
- Study coordinator: Lindsey Helvaty, BS, BA
- Email: lhelvaty@iu.edu
- Phone: 317-278-3020
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.