National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC)

This study is currently recruiting participants.

Verified May 2012 by National Heart, Lung, and Blood Institute (NHLBI)

Sponsor:

Collaborator:

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Information provided by:

National Heart, Lung, and Blood Institute (NHLBI)

ClinicalTrials.gov Identifier:

NCT01322165

First received: March 22, 2011

Last updated: May 16, 2012

Last verified: May 2012

History of Changes

Tracking Information

First Received Date ^ICMJE

March 22, 2011

Last Updated Date

May 16, 2012

Start Date ^ICMJE

November 2007

Estimated Primary Completion Date

September 2015 (final data collection date for primary outcome measure)

Current Primary Outcome Measures ^ICMJE

Not Provided

Original Primary Outcome Measures ^ICMJE

Not Provided

Change History

Complete list of historical versions of study NCT01322165 on ClinicalTrials.gov Archive Site

Current Secondary Outcome Measures ^ICMJE

Not Provided

Original Secondary Outcome Measures ^ICMJE

Not Provided

Current Other Outcome Measures ^ICMJE

Not Provided

Original Other Outcome Measures ^ICMJE

Not Provided

Descriptive Information

Brief Title ^ICMJE

National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions

Official Title ^ICMJE

National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions

Brief Summary

The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) was initiated in 2006 by the National Heart, Lung, and Blood Institute (NHLBI) and the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). The goal of GenTAC is to establish a registry of patients with genetic conditions that may be related to thoracic aortic aneurysms and to collect medical data and biologic samples. The samples and data will be made available to qualified investigators to enable research to determine best medical practices and to advance the clinical management of genetic thoracic aortic aneurysms, and other cardiovascular complications. Over 2600 subjects have been enrolled into the registry.

Eligible subjects must be seen in person at one of the participating locations. Contact the study coordinator at the location nearest you for more information about participation. This study does not provide genetic testing.

Detailed Description

Not Provided

Study Type ^ICMJE

Observational

Study Design ^ICMJE

Observational Model: Cohort
Time Perspective: Prospective

Target Follow-Up Duration

Not Provided

Biospecimen

Retention: Samples With DNA

Description:

If a blood specimen is obtained, it is separated and stored as plasma, viable cells, and extracted DNA. If a saliva specimen is obtained, it is stored for DNA.

Sampling Method

Non-Probability Sample

Study Population

The cohort consists of patients with conditions related to genetically-induced thoracic aortic aneurysms.

Condition ^ICMJE

Marfan Syndrome
Turner Syndrome
Ehlers-Danlos Syndrome
Loeys-Dietz Syndrome
FBN1, TGFBR1, TGFBR2, ACTA2 or MYH11 Genetic Mutation
Bicuspid Aortic Valve Without Known Family History
Bicuspid Aortic Valve With Family History
Bicuspid Aortic Valve With Coarctation
Familial Thoracic Aortic Aneurysm and Dissections
Shprintzen-Goldberg Syndrome
Other Aneurysms and Dissections of the Thoracic Aorta Not Due to Trauma, <50yo
Other Congenital Heart Disease

Intervention ^ICMJE

Not Provided

Study Group/Cohort (s)

Not Provided

Publications *

* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.

Recruitment Information

Recruitment Status ^ICMJE

Recruiting

Estimated Enrollment ^ICMJE

3800

Estimated Completion Date

September 2015

Estimated Primary Completion Date

September 2015 (final data collection date for primary outcome measure)

Eligibility Criteria ^ICMJE

Eligible subjects must have one of the conditions listed below and be enrolled in-person at one of the participating clinical centers.Contact the study coordinator at the location nearest you for more information about participation.

Marfan syndrome
Turner syndrome
Ehlers-Danlos syndrome
Loeys-Dietz syndrome
FBN1, TGFBR1, TGFBR2, ACTA2 or MYH11 genetic mutation
Bicuspid aortic valve without known family history
Bicuspid aortic valve with family history
Bicuspid aortic valve with coarctation
Familial Thoracic Aortic Aneurysm and DissectionsYes
Shprintzen-Goldberg syndrome
Other aneurysms and dissections of the thoracic aorta not due to trauma, <50yo
Other congenital heart disease (e.g., Tetralogy of Fallot, coarctation)

Exclusion Criteria:

Inability of the patient, parent or guardian to give consent.
Unwillingness to provide a blood or buccal specimen.

Gender

Both

Ages

Not Provided

Accepts Healthy Volunteers

Contacts ^ICMJE

Not Provided

Location Countries ^ICMJE

United States

Administrative Information

NCT Number ^ICMJE

NCT01322165

Other Study ID Numbers ^ICMJE

1438, N01-HV-08238, N01-HV-68199

Has Data Monitoring Committee

Yes

Responsible Party

Eser Tolunay, National Heart, Lung, and Blood Institute (NHLBI)

Study Sponsor ^ICMJE

National Heart, Lung, and Blood Institute (NHLBI)

Collaborators ^ICMJE

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Investigators ^ICMJE

Study Director:	Barbara Kroner, PhD, MPH	RTI International
Principal Investigator:	Richard Devereux, MD	The New York Presbyterian Hospital-Weill Cornell Medical Center
Principal Investigator:	William Ravekes, M.D.	Johns Hopkins University
Principal Investigator:	Reed E. Pyeritz, M.D., Ph.D.	University of Pennsylvania
Principal Investigator:	Dianna M. Milewicz, M.D. Ph.D.	University of Texas Medical School at Houston
Principal Investigator:	Scott A. LeMaire, M.D.	Baylor College of Medicine
Principal Investigator:	Cheryl L. Maslen, Ph.D.	Oregon Health and Science University
Principal Investigator:	Ralph Shohet, MD	University of Hawaii
Principal Investigator:	Nazli McDonnell, MD	National Institute on Aging (NIA)
Principal Investigator:	Jennifer Habashi, MD	Johns Hopkins University
Principal Investigator:	Federico M. Asch, MD,FACC,FASE	Medstar
Study Chair:	Kim Eagle, M.D.	University of Michigan

Information Provided By

National Heart, Lung, and Blood Institute (NHLBI)

Verification Date

May 2012

^ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP

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