National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions | oneedsvoice

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National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions

study id #: NCT01322165

condition: Marfan Syndrome, Turner Syndrome, Ehlers-Danlos Syndrome, Loeys-Dietz Syndrome, FBN, TGFBR, 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

status: completed

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). GenTAC established a registry of 3706 patients with genetic conditions that may be related to thoracic aortic aneurysms and collected medical data and biologic samples. The study ended in September 2016. Data and samples are available from NHLBI and requests should be made to BioLINCC. See the NHLBI website for more information: https://www.nhlbi.nih.gov/research/resources/gentac/

start date: November 2007

estimated completion: September 2015

last updated: December 20, 2016

phase of development: N/A

size / enrollment: 3706

study design: Observational Model: Cohort
Time Perspective: Prospective

primary outcomes:

  • Thoracic aortic aneurysms and dissections and their associated surgical interventions [ Time Frame:bi-annual ]

inclusion 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.

sponsor: National Heart, Lung, and Blood Institute (NHLBI)

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

locations: United States