Promising Research For Rare Marfan Syndrome

PALO ALTO, Calif., Jul. 12, 2007 (KGO) (KGO) -- Research is underway at Stanford that could revolutionize the treatment of patients with Marfan Syndrome -- a rare genetic disorder that leads to serious, often fatal heart problems if not treated.

In animal studies, the drug being tested stopped and even reversed the weakening of the arteries. It's a Drive to Discover a new way of looking at the disease and treating it.

Alison Waterman suffers from Marfan Syndrome, a genetic disorder she had no idea she had until last year.

Alison Waterman, Marfan Syndrome patient: "I just felt like someone's hand reached into my chest and started squeezing."

What felt like a heart attack was actually aortic dissection -- the major artery leaving the heart literally tearing apart.

David Liang, MD, PhD, Stanford cardiologist: "Obviously that's a very life threatening condition probably as fatal as any medical condition gets."

Stanford cardiologist David Liang is an expert in Marfan Syndrome and says Alison's situation is not uncommon. While only about 1 in 5,000 people suffers from it, many who do don't know it.

Dr. David Liang: "Unfortunately it still happens that the first diagnosis is made at the time of the cardiac complication."

In hindsight, Alison shows some of the classic signs from her long fingers and limbs to her flexibility. After open heart surgery, Alison is now on a lifetime regimen of beta-blockers, the gold standard when it comes to treatment. But now research has led to a new way of looking at Marfan's Syndrome.

Dr. David Liang: "It's a whole different paradigm. It's not a structural problem but a regulatory problem that's created by the mutation."

Scientists have long understood the protein Fibrillin, which makes up connective tissue, is key to Marfan Syndrome.

Dr. David Liang: "So the thinking was, Fibrillin is abnormal, so the elastic tissue would be weak. [It] makes sort of sense, but it doesn't explain everything else. It doesn't explain why people are tall. It doesn't explain why you have curved backs and all the other features."

The new theory looks at how Fibrillin regulates a protein called TGF Beta.

Dr. David Liang: "So when Fibrillin is not working or abnormal, then the TGF Beta is free to do its thing and it does too much of it, and that's what leads to the weakness in the tissues, the height and everything."

This drug, Losartan, regulates TGF Beta. In animal studies, it stopped and even reversed the potentially fatal weakening of the arteries.

Stanford is recruiting young patients right now -- 6 months to 25 years old -- for the study funded by the NIH.

Dr. David Liang: "The big gain is going to be in treating young people, and the long term is to treat them young before the disease has had a chance to inflict its problems on the body."

Alison is particularly interested in the research. Her five-year-old son just tested positive for Marfan Syndrome.

Alison Waterman, Marfan Syndrome patient: "Parents ultimately have to make the decisions, so I need to be as informed as I possibly can be, in order to make the best decisions for my son."

Alison is getting educated this weekend at the 23rd Annual Conference on Marfan Syndrome. It's underway now through Saturday. Conference details are below:

23rd Annual National Marfan Foundation Conference
July 12 - 15th
Registration available on site
National Marfan Foundation: (800) 8 - MARFAN
Web site: www.marfan.org
For more on the clinical trials: http://clinicaltrials.gov

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