Treatment Trials

2 Clinical Trials for Various Conditions

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      RECRUITING
      Pathogenetic Basis of Aortopathy and Aortic Valve Disease
      Description

      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.

      Conditions
      AortopathiesThoracic Aortic AneurysmAortic Valve DiseaseThoracic Aortic DiseaseThoracic Aortic DissectionThoracic Aortic RuptureAscending Aortic DiseaseDescending Aortic DiseaseAscending Aortic AneurysmDescending Aortic AneurysmMarfan SyndromeLoeys-Dietz SyndromeVascular Ehlers-Danlos SyndromeShprintzen-Goldberg SyndromeTurner SyndromePHACE SyndromeAutosomal Recessive Cutis LaxaCongenital Contractural ArachnodactylyArterial Tortuosity SyndromeBicuspid Aortic Valve-Associated AortopathyBicuspid Aortic ValveFamilial Thoracic Aortic Aneurysm and Aortic Dissection
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      COMPLETED
      National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions
      Description

      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/.

      Conditions
      Marfan SyndromeTurner SyndromeEhlers-Danlos SyndromeLoeys-Dietz SyndromeFBN1, TGFBR1, TGFBR2, ACTA2 or MYH11 Genetic MutationBicuspid Aortic Valve Without Known Family HistoryBicuspid Aortic Valve With Family HistoryBicuspid Aortic Valve With CoarctationFamilial Thoracic Aortic Aneurysm and DissectionsShprintzen-Goldberg SyndromeOther Aneur/Diss of Thoracic Aorta Not Due to Trauma, <50yoOther Congenital Heart Disease
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