Old Drug Offers New Hope for Marfan Syndrome New evidence indicates that the connective tissue disorder, which can be deadly, may be treatable with a common blood pressure drug.
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Old Drug Offers New Hope for Marfan Syndrome

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Old Drug Offers New Hope for Marfan Syndrome

Old Drug Offers New Hope for Marfan Syndrome

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We think we know what the pills we take do - stop a headache, or fight infection, say. But sometimes a drug approved to fix one thing also turns out to help something completely unexpected. NPR's David Kestenbaum has the story about one such drug, a common medication for blood pressure. Now it's being used to treat a rare disease that may have afflicted, by the way, President Lincoln.

DAVID KESTENBAUM: Blake Althaus lives in Minnesota. He's five-and-a-half years old, favorite TV show is "SpongeBob," of course. His favorite joke, hard to pick.

Mr. BLAKE ALTHAUS: Why couldn't the 10-year-old go to see the pirate movie?

KESTENBAUM: I don't know. Why couldn't the 10-year-old go to the pirate movie?

Mr. B. ALTHAUS: Because it was rated Aaarrgh.

(Soundbite of laughter)

KESTENBAUM: Blake is doing well these days, but there have some scary moments. His parents, Anita and Joe, noticed something unusual the day he was born.

Ms. ANITA ALTHAUS: We had a room full of people…

KESTENBAUM: In the delivery room?

Ms. ALTHAUS: In the delivery room, and I mean, his fingers were - they were spidery. I mean he had just these long, long fingers.

Mr. JOE ALTHAUS: Very long arms.

Ms. ALTHAUS: Very long arms.

KESTENBAUM: People said, oh, he's going to be a basketball player. He's going to play piano. But Anita worried.

Ms. ALTHAUS: And I remember sitting in the room that night after everybody had gone, and it was just him and I and I thought - looked at his fingers and I was like, people just don't have fingers this long. This is just odd.

KESTENBAUM: Blake has something called Marfan Syndrome. It's caused by a defect in a single gene on chromosome 15. But that one change causes all sorts of problems. It alters the connective tissue between cells. People with Marfan Syndrome tend to be tall and thin without a lot of muscle. Some have speculated that Abraham Lincoln had it. The thing that scares people with Marfan Syndrome though is that it can cause the main artery coming out the heart, the aorta, to weaken, enlarge and burst. Often this isn't a danger until later in life. But every time Blake's parents took him to the doctor, they learned the aorta in his chest had gotten bigger and bigger.

Ms. ALTHAUS: Oh, it was devastating. We'd leave the appointment, and we'd just feel like our whole world was ending. I mean, it's - we were starting to talk about the fact that Blake was going to have to have heart surgery, you know, sooner rather than later.

KESTENBAUM: The family had been seeing a doctor named Hal Dietz who specializes in Marfan Syndrome. Dietz is out on the East Coast at Johns Hopkins University, and he'd been looking for new treatments that would not required surgery. Recently, he and his colleagues had focused on a protein that seemed to be too active in people with Marfan Syndrome, something called TGF-beta. They studied mice that had a version of Marfan Syndrome and found when TGF-beta was blocked, the aorta developed normally.

Dr. HAL DIETZ (Specialist in Marfan Syndrome): It was really one of the happiest days in my professional life.

KESTENBAUM: This is Hal Dietz.

Dr. DIETZ: You know, research is a very frustrating endeavor. Most of the things that you try don't work. But occasionally, you hit a home run.

KESTENBAUM: Normally at this point, it could take years to develop a drug. But Dietz did a search and discovered there was a drug already out there that might work - a run-of-the-mill medication for high blood pressure that also conveniently was very good at blocking TGF-beta. The drugs name: Losartan.

Dr. DIETZ: It's really quite an amazing story. I went to my office. I sat down at my computer and I fed in TGF-beta blocking drug in Google, and Losartan was the first answer that popped up.

KESTENBAUM: I assumed you had some special database or some big book.

Dr. DIETZ: Oh, no. Google told me it's my first choice.

KESTENBAUM: So there it was. Dietz says it would have been to design a better drug.

Dr. DIETZ: Losartan has been used to treat tens of millions of people with high blood pressure. It's known to be an extremely safe and well-tolerated medication. In fact, it's the go-to medication if someone's having trouble tolerating a different blood pressure medication.

KESTENBAUM: As a test, his team gave Losartan to mice with Marfan Syndrome, and indeed, it seemed to fix the aorta problems. Now normally, if this were a new drug, it would have to be safety tested in humans, which could take years. But because Losartan was already out there in the pharmacies, Dietz could just write a prescription for it. He felt he had to offer it to his worst off patients. He talked to Anita and Joe.

Mr. ALTHAUS: Dr. Dietz said why don't you go home and talk about it. And we said, no, you know…

Ms. ALTHAUS: We've already talked.

Mr. JOE ALTHAUS: …our decision's already made. You know, sign us up.

KESTENBAUM: Blake started take Losartan. For the first two years, his aorta showed no new growth. Anita says his muscle mass improved, also. He started running around like the other kids and riding a big wheel.

Ms. ALTHAUS: And he would say, just let me do it. I do it. And I'm like, okay, okay. And then like, you know, we were - he just could do more.

KESTENBAUM: Hal Dietz says he cautions his patients the drug may not work for everyone, and that he doesn't think it will fix everything. But at the same time, he says, things look very promising.

Dr. DIETZ: To date, we've treated about 19 children with severe Marfan Syndrome, and we're pleased to say that they have all shown a very dramatic response to the medication.

KESTENBAUM: He says it's helped with the aorta and even with the bones.

Dr. DIETZ: The rate of growth of the long bones has slowed down on the medication. So I'm really hopeful that this is going to make a big difference.

KESTENBAUM: Dietz has not published the results with his patients in a journal yet. NPR did talk to six other researchers about the work, though, and most agreed that so far things looked very exciting. But Anji Yetman had some reservations. She's a cardiologist at the University of Utah, followed several hundred patients with Marfan Syndrome, and she worries people may be getting too excited about this drug.

Dr. ANJI YETMAN (Cardiologist, University of Utah): I don't believe we have found a miracle drug for Marfan Syndrome. I think we found a drug that may be highly affective, but there have been patients with Marfan Syndrome on Losartan who unfortunately have gone on to develop complications of their aorta, tears in their aorta, requiring urgent surgery.

KESTENBAUM: Yetman has her patients on another drug that she thinks may works as well or better than Losartan. The way to find out what Losartan does and doesn't do, of course, is with a careful clinical trial. Give some people Losartan, give the rest something else, and compare the two groups. That's what happening right now. The National Institutes of Health has started a clinical trial. There was some concern that people with Marfan Syndrome would just start taking the drug on their own, but the NIH says enough people seem to be enrolling. Hal Dietz says he tells his patients the trial is the only way they can really see what the drug does, find out the right dose, found out who it works for, who it may not work for. The boy Blake, who has become the poster child for Losartan is doing okay. He runs with the other kids, but not quite as fast. And Blake is aware of that. His mom says one morning, he asked if maybe new shoes would help him go faster.

Ms. ALTHAUS: And I ended up crying that whole afternoon while he was at school going, oh my gosh, you know, he's discovering that he's a little bit different, and this is hard. And then I picked him up from school and I said - he says, Mom, can you take me shopping so I can get new tennis shoes so I can run fast? I'm always the slowest guy. And I said, yeah, you are slow. You're going to run slower than the other guys because you have Marfan Syndrome, it makes your ankles a little bit looser and you can't always run that fast. And I said, but you know what, Blake? You are the best fisherman I've ever met in my life. And he said, I am? And I said, you are.

KESTENBAUM: In the last year, Blake's aorta has grown a bit - not an emergency, but his doctors are watching it.

David Kestenbaum, NPR News.

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