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

This study is ongoing, but not recruiting participants.
Sponsor:
Collaborator:
Information provided by (Responsible Party):
National Heart, Lung, and Blood Institute (NHLBI)
ClinicalTrials.gov Identifier:
NCT01322165
First received: March 22, 2011
Last updated: August 11, 2014
Last verified: September 2013
  Purpose

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 3600 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.


Condition
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 Aneur/Diss of Thoracic Aorta Not Due to Trauma, <50yo
Other Congenital Heart Disease

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions

Resource links provided by NLM:


Further study details as provided by National Heart, Lung, and Blood Institute (NHLBI):

Primary Outcome Measures:
  • Thoracic aortic aneurysms and dissections and their associated surgical interventions [ Time Frame: bi-annual ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

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.


Estimated Enrollment: 3800
Study Start Date: November 2007
Estimated Study Completion Date: September 2015
Estimated Primary Completion Date: September 2015 (Final data collection date for primary outcome measure)
  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

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

Criteria

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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01322165

Locations
United States, Hawaii
Queens Medical Center
Honolulu, Hawaii, United States, 96813
United States, Maryland
Johns Hopkins University
Baltimore, Maryland, United States, 21287
United States, New York
The New York Presbyterian Hospital-Weill Cornell Medical Center
New York, New York, United States, 10021
United States, Oregon
Oregon Health & Science University
Portland, Oregon, United States, 97239
United States, Pennsylvania
University of Pennsylvania School of Medicine
Philadelphia, Pennsylvania, United States, 19104-4283
United States, Texas
University of Texas Medical School at Houston
Houston, Texas, United States, 77030
Baylor College of Medicine
Houston, Texas, United States, 77030
Sponsors and Collaborators
Investigators
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: Jennifer Habashi, MD Johns Hopkins University
Principal Investigator: Federico M. Asch, MD,FACC,FASE Medstar
Study Chair: Kim Eagle, M.D. University of Michigan
  More Information

Additional Information:
Publications:

Responsible Party: National Heart, Lung, and Blood Institute (NHLBI)
ClinicalTrials.gov Identifier: NCT01322165     History of Changes
Other Study ID Numbers: 1438, N01-HV-08238, N01-HV-68199
Study First Received: March 22, 2011
Last Updated: August 11, 2014
Health Authority: United States: Federal Government

Keywords provided by National Heart, Lung, and Blood Institute (NHLBI):
Marfan syndrome
Turner syndrome
Bicuspid aortic valve
Ehlers-Danlos Syndrome
Loeys-Dietz syndrome
Aneurysm
Genetic
aortic
thoracic
mutation
dissection

Additional relevant MeSH terms:
Aneurysm
Aortic Aneurysm
Aortic Coarctation
Marfan Syndrome
Arachnodactyly
Ehlers-Danlos Syndrome
Heart Diseases
Turner Syndrome
Gonadal Dysgenesis
Primary Ovarian Insufficiency
Aortic Valve Stenosis
Heart Valve Diseases
Heart Defects, Congenital
Aortic Aneurysm, Thoracic
Lysosomal Storage Diseases
Craniosynostoses
Loeys-Dietz Syndrome
Vascular Diseases
Cardiovascular Diseases
Aortic Diseases
Cardiovascular Abnormalities
Congenital Abnormalities
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Abnormalities, Multiple
Genetic Diseases, Inborn
Connective Tissue Diseases
Limb Deformities, Congenital
Musculoskeletal Abnormalities

ClinicalTrials.gov processed this record on September 11, 2014