Trial record 16 of 28 for:
"Marfan syndrome"
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:
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
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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 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.
| 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 Aneurysms and Dissections of the 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:
Genetics Home Reference related topics:
Apert syndrome
Baller-Gerold syndrome
Beare-Stevenson cutis gyrata syndrome
branchio-oculo-facial syndrome
Crouzon syndrome
Crouzonodermoskeletal syndrome
Ehlers-Danlos syndrome
familial thoracic aortic aneurysm and dissection
galactosialidosis
Jackson-Weiss syndrome
Loeys-Dietz syndrome
Marfan syndrome
Muenke syndrome
persistent Müllerian duct syndrome
Pfeiffer syndrome
Schindler disease
Shprintzen-Goldberg syndrome
tetrasomy 18p
Turner syndrome
MedlinePlus related topics:
Aneurysms
Aortic Aneurysm
Ehlers-Danlos Syndrome
Heart Diseases
Marfan Syndrome
Skin Conditions
Turner Syndrome
U.S. FDA Resources
Further study details as provided by National Heart, Lung, and Blood Institute (NHLBI):
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
Please refer to this study by its ClinicalTrials.gov identifier: NCT01322165
Locations
| United States, Hawaii | |
| Queens Medical Center | Recruiting |
| Honolulu, Hawaii, United States, 96813 | |
| Contact: Fiona Kennedy 808-537-7297 fkennedy@queens.org | |
| Principal Investigator: Ralph Shohet, MD | |
| United States, Maryland | |
| Johns Hopkins University | Recruiting |
| Baltimore, Maryland, United States, 21287 | |
| Contact: Kira Lurman, RN 410-502-2350 kmarant1@jhmi.edu | |
| Principal Investigator: William Ravekes, M.D. | |
| National Institute on Aging, NIH | Recruiting |
| Baltimore, Maryland, United States, 21225 | |
| Contact: Ben Griswold 410-458-4332 bgriswold@rti.org | |
| Principal Investigator: Nazli McDonnell, MD | |
| United States, New York | |
| The New York Presbyterian Hospital-Weill Cornell Medical Center | Recruiting |
| New York, New York, United States, 10021 | |
| Contact: Tanya LaTortue 212-746-2198 tal2008@med.cornell.edu | |
| Principal Investigator: Richard Devereux, MD | |
| United States, Oregon | |
| Oregon Health & Science University | Recruiting |
| Portland, Oregon, United States, 97239 | |
| Contact: Jessica D. Kushner, MS, CGC 866-519-7060 kushnerj@ohsu.edu | |
| Principal Investigator: Cheryl L. Maslen, Ph.D. | |
| United States, Pennsylvania | |
| University of Pennsylvania School of Medicine | Recruiting |
| Philadelphia, Pennsylvania, United States, 19104-4283 | |
| Contact: Amber Ashley Parker 215-614-0294 amber.parker@uphs.upenn.edu | |
| Principal Investigator: Reed E. Pyeritz, M.D., Ph.D. | |
| United States, Texas | |
| University of Texas Medical School at Houston | Recruiting |
| Houston, Texas, United States, 77030 | |
| Contact: Meghan Terry 713-500-5774 meghan.richardson@uth.tmc.edu | |
| Principal Investigator: Dianna M. Milewicz, M.D. Ph.D. | |
| Baylor College of Medicine | Recruiting |
| Houston, Texas, United States, 77030 | |
| Contact: Irina Volguina 832-355-9943 volguina@bcm.tmc.edu | |
| Principal Investigator: Scott A. LeMaire, M.D. | |
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: | 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 |
More Information
Additional Information:
Publications:
| Responsible Party: | Eser Tolunay, 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: | May 16, 2012 |
| 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:
|
Marfan Syndrome Aneurysm Aortic Aneurysm Aortic Coarctation Arachnodactyly Ehlers-Danlos Syndrome Heart Diseases Turner Syndrome Gonadal Dysgenesis Primary Ovarian Insufficiency 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 Hemostatic Disorders Hemorrhagic Disorders |
ClinicalTrials.gov processed this record on May 19, 2013