Pathogenetic Basis of Aortopathy and Aortic Valve Disease

Status: Recruiting

Location: See all (2) locations...

Study Type: Observational

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.

Eligibility

Participation Requirements

Sex: All

Healthy Volunteers: f

View:

• 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.)

Locations

United States

Georgia

Childrens Healthcare of Atlanta

NOT_YET_RECRUITING

Atlanta

Indiana

IU School of Medicine

RECRUITING

Indianapolis

Contact Information

Primary

Lindsey Helvaty, BS, BA

lhelvaty@iu.edu

317-278-3020

Backup

Benjamin Landis, MD

benjland@iu.edu

317-278-2808

Time Frame

Start Date: 2015-12-10

Estimated Completion Date: 2030-12-31

Participants

Target number of participants: 3000

Treatments

Aortopathy- 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)

Syndromic- Open to external enrollment

Subjects with a genetic diagnosis of Marfan Syndrome (MFS), Loeys-Dietz Syndrome (LDS), Vascular Ehlers-Danlos Syndrome (EDS)~•positive genetic testing and/or a previous cardiac study required to be eligible

Aortopathy with Positive Genetic Results- Open to 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) who also have positive genetic testing results related to aortopathy.

Aortic Valve Disease- Closed to enrollment

Subjects with aortic valve disease (bicuspid, unicuspid, or tricuspid disease)

Family Members- Open to external enrollment

Family members of eligible subjects~•Only family members of subjects with syndromic diagnoses are eligible for external enrollment at this time

Controls- Closed to external enrollment

Control subjects having tissue removed during a surgical procedure (e.g. coronary artery bypass graft surgery (CABG), cardiac transplant, etc.)

Related Therapeutic Areas

Achard Syndrome

Bicuspid Aortic Valve

Autosomal Recessive Cutis Laxa Type 1

Cutis Laxa

Intersex