twitter Tweet

OHSU Will Host For The Study Of Marfan Syndrome, And Other Causes Of Aortic Aneurysms

   Portland, Ore.

The NIH-funded OHSU center will collaborate with hospitals and physicians throughout the Pacific Northwest to gather patient data,  blood and tissue samples for advanced research

Oregon Health & Science University will host one of five regional clinical centers for the study of genetically triggered thoracic aortic aneurysms and other cardiovascular complications as part of an initiative funded by the National Heart, Lung and Blood Institute (NHLBI) of the National Institutes of Health.T

he purpose of the NHLBI effort is to establish a national registry with a tissue repository that would provide: a resource for evaluating disease progression and the response to various surgical and pharmacological interventions; data for planning appropriate randomized clinical trials; and tissue and blood for genomic investigations. The registry will collect and analyze clinical, laboratory and family pedigree data on about 3,500 patients nationwide being treated for aortic aneurysm, aortic enlargement, aortic insufficiency, heart failure or other aortic defects in which a genetic component is suspected.

The ultimate aim is to enhance the clinical management of congenital cardiovascular conditions, learn more about the root causes of aortic diseases, improve existing therapies, and find new treatments and strategies to halt progression of these diseases. Thoracic aortic aneurysm (TAA) is a life-threatening condition and the underlying cause of almost 2,000 deaths in the United States every year.

In particular, Marfan syndrome, a progressive and degenerative genetic disorder of the connective tissue, is associated with a high risk of a weakening of the aorta and TAAs in people who are young and middle-aged. The aorta is the largest artery supplying blood to the heart. Weakening of the aorta can cause it to dissect or rupture. Left untreated, nearly a quarter of patients with TAA dissections die within 24 hours and the rest within two weeks. The National Marfan Foundation estimates that more than 200,000 people in the United States have Marfan syndrome.

The OHSU center - which will operate under the direction of Cheryl L. Maslen, Ph.D., OHSU professor of medicine and molecular and medical genetics as well as associate director of the OHSU Heart Research Center - will collaborate with hospitals and physicians throughout the Pacific Northwest to collect data on patient subjects, care providers, hospitals, and clinical interventions as well blood and tissue specimens for the NLHLBI repository.

The OHSU center's $800,000 four-year budget is being funded under a contract with RTI International, a nonprofit research institution headquartered in Research Triangle Park, N.C.  RTI, in turn, is being underwritten by a grant from the NHLBI; it will manage the registry and serve as the data coordinating center for all five regional centers. Each of the regional centers is expected to collect 200 patient samples a year for a total of 1,000 annually.

"The importance of this center for OHSU," said Maslen, "is that it puts us into direct collaboration with other major medical centers around the country which will be working collectively as a single group to accomplish the goals of the NIH for this project. It will give OHSU an entire new resource for translational research because under our contract with RTI we will have first knowledge and first access not just to our 200 patients but to all 1,000 patient samples collected nationwide. That gives us unprecedented access to resources that would otherwise be very expensive and very difficult to fund.

"The four other regional clinical centers are located at Stanford University, Johns Hopkins Medical Center, Cornell University and the University of Pennsylvania. "We will do more outreach than the other centers to rural populations, which often are underrepresented in research," said Maslen. "We've made arrangements with physicians in Washington State, Idaho and Montana as well as Oregon and are working on collaborations in Alaska.

"Participating with Maslen in the OHSU center's work as co-investigators are Howard Song, M.D., Ph.D., OHSU assistant professor of cardiothoracic surgery; Victor Menashe, M.D., OHSU professor of pediatric cardiology; and Cynthia Morris, Ph.D, M.P.H., OHSU professor and vice chairwoman of medical informatics and clinical epidemiology.


OHSU is Oregon's only health and research university. As part of its multifaceted public mission, OHSU strives for excellence in scholarship, research, clinical practice and community service, OHSU includes four schools, two hospitals, numerous primary and specialty care clinics, multiple research centers and institutes and dozens of community service programs. OHSU's fundamental purpose is to improve the well being of people in Oregon and beyond.

Previous Story OHSU School of Dentistry New Appointments, Awards Next Story Doernbecher Pediatrics- Clackamas To Become Willamette Falls Pediatric Group Nov. 1