I Have Marfan Syndrome

Those of you in the Marfan community have probably heard about the losartan vs. atenolol trial, but since it’s Have a Heart Month I wanted to talk a little bit about it and give space for a trial participant to discuss it as well.

Background: Atenolol is a beta-blocker, and right now beta-blockers are the standard of care for Marfan patients medication-wise. As of now, there is no way to stop the aorta from growing, but researchers have found that decreasing the body’s blood pressure tends to help slow down the aortic growth. Beta-blockers like atenolol lower the blood pressure, which is why they’re used. However, there has never been a wide-scale, double blind trial done to prove that beta-blockers are, in fact, an effective option.

Without getting too technical, several years ago Dr. Hal Dietz from Johns Hopkins created mice with Marfan syndrome and tested the drug losartan (cozaar) on them. Losartan is a blood pressure medication (an angiotension receptor blockers) that has been on the market for a long time. Dietz realized that it affected a protein called TGF-B, which is over-expressed in Marfan (leading to the overgrowth of several structures in our bodies, like our bones). Dietz theorized that using losartan to curb the expression of TGF-B might prevent various complications from Marfan, especially the overgrowth of the aorta.

In 2006, Dr. Dietz unveiled the results of his mice trials at the National Marfan Foundation conference in Philadelphia. Losartan had kept the aortas at a normal size! It was now time to test the drug on humans, to see if it would produce the same results.

Now: The trial has been going for 3 years now; the first round of participants is finishing up. However, the trial is still 104 patients short of the 604 it needs. Enrollment ends Jan. 31st, 2011. The requirements for trial enrollment are:
- Be between the ages of 6 months and 25 years at the time you enroll
- Have a diagnosis of Marfan
- Not be pregnant
- Not have had any previous aortic surgery
- Not have any serious side effects from either atenolol or losartan
- Not need to take a beta blocker for any reason other than your dilated aorta
- Be willing and able to travel 5 times over 3 years to the study site for all study echocardiograms and examinations.

Financial assistance IS available to go to ANY trial site you want (not just the one closest to you). Go here for more information about the trial. You can also contact Jennifer Buffone at the NMF at jbuffone at marfan dot org.

Kari’s Story: Kari is a fellow NMF volunteer. Her daughter, Haley, has Marfan and is preparing to finish up with her time in the trial. I asked Kari to write a bit about their family’s experience.

After a great deal of soul searching, we decided to enroll Haley in the Losartan/Atenolol clinical trial three years ago. While we were tempted to go to her local cardiologist and ask him to place our daughter on Losartan, we felt it was important to learn how well the drug works and whether it has troubling side affects first. We agreed that the clinical trial was the best way to determine whether or not this was another effective treatment for those with Marfan syndrome.

We felt comfortable enrolling Haley in the trial when we discovered how thoroughly the patients would be monitored throughout the study. Everyone from the lab and imaging techs, to the clinic coordinator and cardiologist, truly cares about the well being of our daughter. You would never guess that Haley isn’t one of their regular Marfan patients. She is treated as a person, not a number, with professionalism and compassion. In addiiton, the staff always takes the time to answer our questions, address our concerns, and promptly answer our e-mails.

We also are impressed with how welcome and comfortable they make Haley feel at each and every appointment. She enjoys our trips to the Marfan clinic and I know she’ll miss seeing her other “Marfan doctor” after her final appointment this June.

Our appointments have always started on time and they traditionally last under two hours (including an echocardiogram). The clinic coordinator also checks in with us between appointments to make sure everything is going okay with Haley. As a parent, I appreciate that. (We have also maintained our annual appointments with Haley’s local cardiologist throughout this process.)

We do not regret our decision to enroll Haley in the trial one bit and are so excited that the trial has finally reached 500 participants! However, we desperately need 104 more enrollees before they can start analyzing the data. I encourage all parents of children with Marfan syndrome to thoughtfully consider enrolling their children in the trial. They will receive top-notch care at some of the best facilities in the world. (In addition, if your child did not fully meet the trial requirements 1-2 years ago, I recommend getting them re-checked, since children tend to grow “in and out” of the Marfan diagnosis.)

Our family is so grateful for all of the incredible research that has transpired since Haley’s diagnosis. The promising research of Losartan and its affect on Marfan mice has brought a renewed sense of hope to the Marfan community. This clinical trial will help us determine whether or not this hope should indeed become a reality.

PLEASE, if you or your child is eligible, consider enrolling in the trial. Your participation can help change the future for Marfs all over the world.

Also, don’t forget to enter the Have a Heart Month giveaway.