OHSU Enrolling Research Subjects in National Aortic Aneurysm Registry

01/31/11  Portland, Ore.

The university is one of five regional centers assembling data to get a better fix on how genetic disorders trigger some deadly cardiovascular conditions.

Oregon Health & Science University is one of five major academic medical centers in the United States where study subjects are now being enrolled in the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC). 

The information collected through GenTAC is expected to help physicians better understand the link between genetic make-up and the risk of thoracic aortic aneurysms (TAAs) and heart disease. The goal is to improve the clinical management of genetic TAAs and other cardiovascular complications that can arise from some genetic disorders and to develop new treatments and strategies to halt the progression of these diseases. 

GenTAC is sponsored by the National Heart, Lung and Blood Institute and the National Institute of Arthritis and Musculoskeletal and Skin Diseases of the National Institutes of Health. 

TAA is a life-threatening condition and the underlying cause of almost 2,000 deaths annually in the United States. Marfan syndrome, a progressive and degenerative genetic disorder of the connective tissue, is particularly associated with a high risk of TAAs in young and middle-aged people. Marfan can weaken the aorta, the main artery from the heart, leading to tears or a rupture that are almost always fatal. An estimated 200,000 people in the United States are affected by Marfan, which is often hereditary. But at least a quarter of those affected are the first in their families to have the disorder. Many do not know that they are affected. 

The enrollment centers, in addition to the one at OHSU, are located at Johns Hopkins University, Weill Cornell Medical College, the University of Pennsylvania and the University of Texas at Houston/Baylor College of Medicine. OHSU's NW Center for Thoracic Aortic Aneurysm Research – headed by Cheryl L. Maslen, Ph.D., OHSU professor of medicine and molecular and medical genetics and associate director of the OHSU Heart Research Center – is collaborating with hospitals and physicians throughout the Pacific Northwest to enroll participants. 

Each center has begun collecting biologic samples and medical data from people of all ages and ethnicities who either have been diagnosed with conditions related to thoracic aortic aneurysms thought to be caused by genetic disorders, or who have a family history of aneurysms and dissections of the aorta. All data and samples are coded to protect the identity of participants and will be shared only with researchers approved by the registry. 

"Enrolling is simple and takes a minimal amount of time," said Maslen. "Participants are asked to answer a few questions about his or her health, lifestyle, medications, treatments and family history and then to provide a small blood or saliva sample. Some will be asked to come back in two years for a followup survey, others may be asked back more frequently, depending on their specific conditions." 

In addition to those with Marfan, subjects are being recruited for the registry who have been diagnosed with Turner syndrome, Ehlers-Danlos syndrome, Loeys-Dietz syndrome, Shprintzen-Goldberg syndrome or a bicuspid aortic valve, all genetically triggered conditions that affect cardiovascular health. 

Those interested in participating in the GenTAC registry should contact Jessica D. Kushner at OHSU at 503 346-0023 or kushnerj@ohsu.edu. Interested parties also can call the data coordination center at RTI International, the nonprofit research institution managing the registry, at 800 334-8571, ext 24640, or genetic-registry@rti.org. For more information about GenTAC, go to the official Web site: http://gentac.rti.org

 

About OHSU 

Oregon Health & Science University is the state's only health and research university, and its only academic health center. It is Portland's largest employer and the fourth largest in Oregon (excluding government), with more than 12,400 employees. The university's size contributes to its ability to provide many services and community support activities not found anywhere else in the state. It serves patients from every corner of the state, and is a conduit for learning for more than 3,400 students and trainees. OHSU also is the source of more than 200 community outreach programs that bring health and education services to each county in the state. As a leader in research, OHSU earned $307 million in research funding in fiscal year 2007. OHSU serves as a catalyst for the region's bioscience industry and is an incubator of discovery, averaging one new breakthrough or innovation every 2.7 days, with more than 4,100 research projects currently under way. OHSU disclosed 132 inventions in 2007 alone, and OHSU research has resulted in 33 startup companies since 2000, most of which are based in Oregon.