A DMD Patient and Clinical Trial Participant Shares His Journey

Billy was diagnosed with Duchenne Muscular Dystrophy (DMD) at the tender age of four. Although young, he quickly understood that his muscles didn't work the same way as those of other children his age. When Billy was 10, he enrolled in the first-ever U.S. exon-skipping clinical trial and has been on infusion-based therapy ever since. Now a young adult of 22, Billy reflects on his experience as a clinical trial patient and the valuable lessons he learned throughout his journey.

Amy Ripston (AR): Do you remember the day your mom told you about the possibility of joining a clinical trial? 

Billy Ellsworth (BE): I was in middle school at the time when I remember coming home, and my mom mentioned a clinical trial that could make DMD easier for me. She asked if I would like to take part in it. It's hard to recall exactly how I felt about the news, but it was more curiosity than excitement. I was interested in learning more. A few weeks later, I had my first screening appointment, and was later enrolled.

AR: Tell me about the early days of participating in the trial. What was it like?

BE: At the start of the trial, I had to get an infusion every week, which meant driving three hours from Pittsburgh, PA to Columbus, OH. I was grateful I didn't have to deal with the hassle of flying like some of the other participants, but it got old after a while. Plus, I had to bring my schoolwork with me for most of middle school. It was nice to have something to do during the long drive or infusion, but it’s not a fun experience doing schoolwork in a hospital. 

The infusions themselves were another story. I was apprehensive about the weekly jabs of the needle and remembered asking if there was a better way of doing this than sitting there with an IV all day. There wasn’t, of course, and after a while I just got used to it. Luckily though, I didn’t have any side effects — I was just nervous.  

AR: What was the most challenging part of participating in the trial?

BE: To this day, I still vividly remember when my mom sat me down and told me she had something serious to share with me. She explained that as a part of the trial, I was going to have surgery. I was immediately filled with fear and bombarded her with questions about why I needed surgery and what they were going to do. She explained that it was a muscle biopsy, which involved making an incision in my arm and removing a small amount of muscle tissue. At first, I jumped to the wrong conclusion and thought they were going to remove a large portion of muscle, which was not something I wanted to go through.

The first biopsy was rough, and my recovery was painful. It hurt for a few weeks and I had limited mobility in my arm. The worst part, however, was taking the bandage off. I took it off myself at home and had to be very careful not to pull on the stitches. Throughout the trial, I had four biopsies, and though they got easier each time, I almost didn't go through with the final one. I didn't want to go through that again. However, after speaking with family members and medical staff, I changed my mind. The data from my biopsy could help further science and potentially help others, and that was meaningful to me.

AR: There were 11 other boys in the clinical trial, did you get to meet them?

BE: Yes, I was able to meet the other boys that were part of the Wednesday group. It was nice to talk to other people my age that were going through the same thing. We don’t talk as much today, but I considered them very close friends during the trial. 

AR: The treatment was successful in slowing your progression. How quickly did you notice a change?

BE: It was definitely gradual. I remember my mom and dad were watching the Olympics and I jumped off the stairs on the last step, landing perfectly. I was impressed with myself — and surprised — that I actually did that at age 12. 

Not everyone in the trial was as lucky as me. I guess it was because it was a placebo trial. Some of the boys weren’t on the actual drug. I was one of the lucky ones that was on the active drug the entire time.  

AR: How are you doing today?

BE: I am doing alright, better than I should be at age 22. I’ve had three bone fractures in eight months in the past year, and right now I am recovering from a fractured femur that occurred last October. This fracture was not operable and the bone had to heal on its own. This recovery has been more difficult since I was ordered to non-weight bear for almost two months. I’m not walking right now and am in rehab, but I am still self-sufficient in every other way and have not lost strength. I’m having more of a bone issue currently than a muscle issue. I believe my weekly drug treatment is keeping me strong.  

AR: There are more clinical trials for DMD after the success of your trial. At some point, will you need to seek another treatment? 

BE: I was given another opportunity to participate in a clinical trial, but they needed me to wash-out, or completely go off treatment. That was a really scary thought for me. What if my condition declined during that time? It is a next-generation therapy of the one I am on now, so it was likely it would help more. However, there was just too much uncertainty due to the wash-out requirement so I declined. 

Looking back, I am happy with my decision. The treatment was put on FDA hold and the boys in the trial were off-drug for longer than they should have been — for weeks/months on end. Who knows how I would have fared. And, as of now I am still doing ok. 

AR: That is really scary, and a tough decision to make. I really appreciate your time today and learning more about your experience. Do you have anything you would like to convey to clinical research staff or the pharmaceutical companies that design these trials? Or anything else to add?

BE: I really have no complaints. The clinical staff was really nice, which made the experience more welcoming and less scary. As for the study design, I wish I didn’t have to go to Columbus weekly, but those visits became less frequent as the trial went on. I also wish that so many biopsies wouldn’t be required, especially if a placebo is part of the protocol. 

I am starting to do some patient engagement, public speaking, and advocacy work with my mom to help further DMD awareness and research. However, right now I am focused on getting back to walking. The last thing I’ll say is that I hope everyone remembers that a patient is more than their diagnosis. After all, I am 22 and want to be able to focus on typical 20-year-old things!