Understanding the genetic causes of aortic diseases
Official title: Pathogenetic Basis of Aortopathy and Aortic Valve Disease
Run by Indiana University · NCT03440697 · Data updated 2026-05-14
This study is no longer in our active list. It may have stopped recruiting or finished. The details below are as of 2026-05-14 and are kept for reference. Check ClinicalTrials.gov for its current status, or see similar studies below.
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 |
|---|---|
| Sex | All |
| Enrollment | 3000 (estimated) |
| Sponsor | Indiana University Academic / other |
| Locations | 2 sites (Atlanta, Georgia and 1 other locations) |
| Trial ID | NCT03440697 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a 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.
✕Probably not a fit
Patients without a genetic diagnosis related to aortopathy or those with unrelated aortic diseases may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: 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.
Who can join: the full rules
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 it's running
-
IU School of Medicine
Indianapolis, Indiana, United States Recruiting -
Childrens Healthcare of Atlanta
Atlanta, Georgia, United States Not yet 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
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Pregnancy-Related Aortic Dissection in China
This study looks at cases of aortic dissection that occur during pregnancy or shortly after, to understand outcomes for mothers and babies.
-
GORE MBA Arch Endoprosthesis Early Feasibility Study
This study tests the safety of the MBA device in people with arch-related thoracic aortic diseases to see if it can be used safely in real-world settings.
-
Metabolic testing in people with vascular Ehlers-Danlos syndrome
This project will test whether people with vascular Ehlers-Danlos syndrome have problems with how their bodies store and use fat that could lead to insulin resistance or diabetes.
-
Registry for hereditary cardiovascular diseases in Brazil
This study is trying to create a registry of Brazilian patients with hereditary heart diseases to see how common certain genetic changes are in people with these conditions.
-
Using presepsin levels to guide antibiotic treatment in thoracic aorta surgery patients
This study is testing if measuring a specific marker in the blood can help doctors give the right antibiotics to patients after thoracic aorta surgery to prevent infections and improve recovery.
-
Endovascular treatment for aortic arch pathologies in Spain
This study is testing if special stent devices can help people aged 18 to 90 with serious aortic arch problems live longer and stay safe.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.