Patient Experiences with Biomarker Study

Why did you enroll? I feel like it is so important to know as much as I can about this disease, for myself and for others. I feel lucky to be involved.  


What did the study involve?  It is Monday thru Friday, you stay in the hospital the entire time. The first day you have an MRI, echocardiogram and Ekg . Every morning at 7 they draw blood, then you have 1/2 hour to shower and dress for the day, at 7:30 there is another blood draw. Either Tues or Wed (can't remember, it has been almost a year since my first visit) you have a 6 minute walk and a couple of other physical tests, then more blood draws. The last couple of days, there is not much going on besides the blood draws.


How would you characterize your experience in the study?  Dr. Zimmerberg, the Principle investigator and Irina the Clinical coordinator are so smart and helpful.  The researchers and staff are very nice. The nurses at the NIH are awesome! I will have to say, though, my next vacation will be somewhere more tropical and include mai tais and pina coladas!

Hello, my name is Kathy and I have LGMD and I’m sure if you are reading this you most likely have some form of Muscular Dystrophy (MD) and know that you are not alone. 


Why did you enroll? Besides my siblings with MD I don’t know any others but it’s nice to know there is an incredible force of people at National Institutes of Health (NIH) trying to solve the MD puzzles.  Not that I would choose this disease but it does put me in a unique position to help in the fight against muscle disease.  I don’t expect a cure for myself from this study but I am hopeful by my volunteering now it will help people in the future to lessen or even prevent muscle disease. 


What did the study involve?  Dr. Zimmerberg’s study at NIH entails 4 visits for a week at a time.  At NIH you are given your own room with your own bathroom.  You’ll be given a menu to order room service.  On your first day Dr. Zimmerberg reviews everything that is going to happen during the week and gives you ample opportunity to ask questions.  Being the patient is pretty easy and I almost found it relaxing to slow down for the week.  You’ll want to bring a lot of reading material or you can use the Wifi at NIH.  You’ll be taken to various tests (MRI, EKG, PT assessment, etc.) by wheelchair so for a couple of days you don’t walk anywhere or do any physical exercise.  The next few days you can leave your room and walk around the building and visit the coffee shop, cafeteria or the gift shops.  Besides the tests they will be doing blood draws through the day and some of the nights at very specific times.


How would you characterize your experience in the study? I can say that there is no nicer group of people than the staff at NIH working on the MD study. They are very caring and take excellent care of you while you are at NIH for the week.  It is a pleasure working with Dr. Zimmerberg and his team and believe it or not I am actually looking forward to my next visit.

Why did you enroll? I chose to take part in Dr. Zimmerberg’s research for the “greater good” and an unanticipated benefit is I’m learning an amazing amount of detail about my overall health, LGMD, and how the disease is affecting me. 


What did the study involve? As a patient in Dr. Zimmerberg’s LGMD2B/Miyoshi study you will be cared for by health professionals at the very top of their game. Dr. Zimmerberg and his team are not just kind, respectful and appreciative… they are flat out brilliant.  And the food? Meals are surprisingly good, you can order off a menu, and they are delivered like hotel room service. 


How would you characterize your experience in the study? In two weeks I’ll be once again flying from my home in Alaska to NIH headquarters in Washington, D.C. for five days of intensive tests. I know I won’t be cured and most likely won’t see any improvement in my own condition; but truth be told I’m actually looking forward to it. Prior to beginning the study I was nervous about the many unknowns and felt I didn’t have the time, dreaded the travel and the being away from my family, and was not looking forward to clinic food.   It wasn’t long after my arrival NIH that I knew and felt I’d made the right decision. Dr. Zimmerberg and his team and in fact the entire NIH staff - put me at ease right away.  I enthusiastically  recommend that all LGMD patients seriously consider participating in this important study.

Why did you enroll?  I enrolled in the study because they were looking for study participants, with very specific criteria.   I know that there aren't very many people with my type of dystrophy, in the general population, and I wanted to help future Miyoshi patents, if not myself to test out future therapies.  It's not a lot of fun, but, without patients to study, they can only model different theories without any data to find out for sure.  I hope my small part, can help, with their research for a cure. 


What is the purpose of the study?  The study is trying to find biomarkers to measure effectiveness for future drug or other therapy trials.


What did the study involve?  The study itself involved a lot of blood draws, which was no fun, but, they knew this and made every effort to make it as painless as possible.


The study was a week long.  They wanted me to rest in bed, for most of the time, to rest my muscles.  There were two MRI's, which were 'feet first', (to concentrate on my legs), so my head was out of the machine or just in a few inches.  The 'big event' was a muscle stress test.  They took a couple of blood draws, early in the morning, and then I was told to "run" (ok walk) as fast as I could for a few minutes.  This would tire out my leg muscles.  Then they wanted to measure my blood values for about 30 minutes. 


I had an IV line, so they just took my blood from it every few minutes.  From this they could 'watch' how my muscles, and how other parameters responded after stress.


I had a few other simple physical tests done, to measure how strong my muscles were, or how weak they had become, depending on your point of view.  It was a very thorough exam process.  Actually, much better than most of my regular Neurologist exams in the past.  I'll be going back for more testing, in a few months, so they can monitor the 'rate of decay' of my muscles and gather more data points.