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Eileen Masciale
Consulting Director of Communications
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publicity@marfan.org  

Pivotal Marfan Syndrome Study Needs 115 More Participants;
Deadline for Enrollment Extended in Atenolol vs. Losartan Clinical Trial

February is National Marfan Awareness Month;
Newly Diagnosed Urged to be Screened for Trial 

Port Washington, NY, February 1 – This year, there is an even greater reason than ever before for people who may have Marfan syndrome to be evaluated and seek a diagnosis. If they do have the potentially fatal connective tissue disorder, they have an opportunity to participate in a critical clinical trial that is comparing how two medications affect the enlargement of the aorta, the life-threatening aspect of Marfan syndrome.

The clinical trial Atenolol vs. Losartan in Individuals with Marfan Syndrome, is funded by the National Heart, Lung, and Blood Institute and conducted by the Pediatric Heart Network and leading Marfan syndrome clinics around the country. It is comparing the effect of losartan, an FDA-approved medication, and atenolol, a beta blocker that is the current gold standard, on the aorta (the large vessel that carries blood away from the heart) in people with Marfan syndrome.

Research published in the journal Science (April 7, 2006) showed that losartan prevents and may even reverse the potentially fatal weakening of arteries in mice with Marfan syndrome. The clinical trial is hoping to replicate that result in people with the condition.

There are 604 people – ages six months to 25 years – required for the study. Although 1147 patients have been screened, only 489 have met clinical criteria and enrolled, leaving a gap of 115. Enrollment has been extended to January 31, 2011. There are 26 trial sites located in the U.S., Canada and Belgium. Complete details about the clinical trial, including enrollment criteria, are on the NMF website, www.marfan.org.

“By allowing your Marfan children in the study now, you are creating a better future for future generations. We can’t learn how to overcome the issues of Marfan syndrome if people don’t collectively get together, be included in research processes, and do their part to help advances in modern medicine,” said James Jonas, of Longmont, CO, whose daughters Phoebe, 5, and Eliza, 3, are enrolled in the clinical trial. James also has Marfan syndrome but is above the age limit for participants.

Diagnosis and Treatment of Marfan Syndrome is Life-Saving

Medical experts agree: About half of those who have Marfan syndrome are not diagnosed. This lack of diagnosis can be fatal because people with the condition are at a 250 times increased risk of suffering a tear or rupture of their aorta.

Medical advances to slow the growth of the aorta and surgery to repair it before it tears or ruptures have come a long way in the past 30 years. People with Marfan syndrome can reasonably expect to live a normal lifespan despite the life-threatening heart complications they face – if they are diagnosed with the disorder and receive proper treatment, including medication and, when necessary, surgery.

Because Marfan syndrome is a disorder of the connective tissue, which is found throughout the body, multiple body systems are affected. People with this condition are frequently taller than other non-affected members of their family, with disproportionately long limbs, fingers and toes. They often have an indented or protruding chest bone, a curved spine (scoliosis), flat feet, a high-arched palate in their mouth and loose joints. The weak connective tissue can also be found in the aorta, and the constant pounding of the heart can cause this fragile tissue to enlarge or even tear if precautionary measures aren’t taken. In about three-quarters of cases, Marfan syndrome is inherited from a parent, but in 25 percent of cases, it results from a spontaneous mutation.

A multi-system clinical exam is required to make the diagnosis. A cardiologist will examine the size and function of the aorta and heart valves; an ophthalmologist will evaluate the eyes, including a slit-lamp exam to look for lens dislocation; and a orthopedist will examine the bones and joints. A medical geneticist is also usually involved in the diagnostic process, to oversee all findings and coordinate all specialists.

“This year, as the NMF recognizes February as National Marfan Awareness Month, we hope that people will take the time to learn about the condition and, if they suspect that they or a family member is affected, they seek an evaluation. If the diagnosis is confirmed, we urge people to be screened for the losartan vs. atenolol clinical trial. The research could benefit them and future generations,” said Josephine Grima, PhD, NMF Vice President of Research.

National Marfan Foundation is a Resource for Patients and the General Public 

The National Marfan Foundation, founded in 1981, is a non-profit voluntary health organization dedicated to saving lives and improving the quality of life of individuals and families affected by the Marfan syndrome and related disorders by:

• Educating affected individuals, family members and the health care community about Marfan syndrome and related disorders. 
• Advocating for and funding clinical and molecular research into the early detection and treatment of Marfan syndrome and related disorders.
• Providing a network of local and special-interest support groups for affected individuals and their families.

For more information on Marfan syndrome, log on to www.marfan.org or call 800-8-MARFAN.

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