A Parent’s Perspective on Preparing and Screening for Clinical Trial in Duchenne

October 14, 2020

Written by Jessica Rownd, mom to 14-year-old Wyatt

Our Family

My name is Jessica, I have been married to my high school sweetheart, Patrick, since 2004. We have two boys. Wyatt has DMD and Wynston does not have it, but in no way would I ever say he is not affected by the diagnosis. We have lived in Louisiana all of our lives and have been living with the Duchenne diagnosis for almost 13 years. Deciding to participate in a clinical trial was not an easy decision. It impacts not only the child with Duchenne but everyone in the family, including his service dog! After going to conferences and hearing about trials Patrick and I decided that we could no longer sit on the sidelines and hope that there would be a cure, we needed to help forward science. To understand the last five years participating in clinical trials, please continue to read our clinical trial journey.

My son Wyatt is 14 years old and was diagnosed at 15 months in 2007. Wow that is crazy to think it has been so long. We have been very blessed that he is doing very well from a mobility standpoint. He is still ambulatory at 14 years old, can still ride a 2 wheel bike, throw and catch a baseball and football. He is definitely losing some of his abilities…stairs are very tough, it’s harder getting up from the floor, and jumping is practically gone. He now has some scar tissue in his heart. But through this he perseveres.

Our Perspective on Preparing and Screening for a Clinical Trial in Duchenne muscular dystrophy:

Wyatt has participated in a few clinical trials and has been in a research trial Image DMD for over 5 years. I am a nurse and I find that if we do not forward science we will never find a cure for Duchenne. My husband and I realize and accept the idea that trials will not always pan out as we hope. His first trial in 2015 ended with a fatal adverse event. That was a bit traumatizing, to say the least, and we thought we would hold off on any other trials for a while. Well that didn’t last long, 1 year to be exact. We are not the kind of people to just sit and wait to see what happens. We decided to get Wyatt screened for another trial that had opened. He did get into the trial and after 6 months of possible placebo he was started on the open label arm of the trial. Wyatt was in his second trial for over three years and we believed he improved with the medicine; we were devastated when the trial was cancelled.

My husband Patrick and I decided we would take a break for a bit from Wyatt participating in any other trials. We were all tired from traveling so much and the termination of the trial really took a toll on all of us. It isn’t something the trials tell you about. They don’t tell you that you may find out the trial is cancelled from Facebook…it’s like a punch in the gut. We are lucky to have such a close knit DMD community but word travels faster than drug companies realize and it catches many families off guard. That is not something that you see in the consent you sign. Wyatt did complete the termination visits and the coordinators at the site discussed other trials that were available there. I told them that we weren’t ready just yet. I talked to my counselor about the way I felt about getting into a new trial and she said we would get a sign when it was time for us to jump in again.

February 2020: The Sign

In February my mom and I attended the Jett Foundation Mississippi Family Workshop to hear and learn about potential trials and research that may be available to Wyatt. Luckily, we did learn about an open trial and Jett Foundation was able to connect me with a point person at the pharmaceutical company, which led to me speaking with the clinical coordinator to find out more about the trial at our previous trial site.

Unfortunately due to COVID-19 things were shut down for a while and we again felt that we were letting our little boy slip through our fingers.

June 2020: Moving Forward

In the next few weeks, I received a phone call from the coordinator saying that the site was opening back up for screening and she wanted to know if we wanted Wyatt to be screened. I called my husband and told him about the offer and we both agreed we needed to move forward.

I know that clinical trials are not for everyone; they are a lot of work, very time consuming, family destructive and tiring for everyone but I wanted to help other parents who are interested to better understand and prepare as I wish someone would have done for me. If you are interested in a trial, read some of my comments below of what to expect when thinking about participation in a clinical trial and take note of things you should consider as a family before making the commitment.

June 17: Clinical Coordinator Call

After agreeing with my family that we will be taking the chance, I called the clinical coordinator and asked some of the questions below prior to screening:

  • What is the drug and mechanism of action (i.e., what the medicine will bind to, like an enzyme)?
  • What type of medication will he be receiving? What are the short-term side effects? What are the long-term effects of this drug? How is the drug given? (injection, by mouth, infusion)
  • Are there other procedures or evaluations we should know about (MRIs, muscle biopsy, etc.)
  • How often will I be traveling for visits? Can we get it done at our home after a few weeks?
  • What will be required during the screening process? What test can we expect?
  • What will be expected of us?
  • Can we leave the trial if we do not want to do it anymore?
  • What are the primary endpoints?
  • What costs are covered by the company to participate in the trial? ( lodging, food, gas, etc.)

After talking through those questions, we decided we would like Wyatt to be screened and set up the date for the screening visit. The travel coordinator got in touch with us regarding who is going with him to the visit and what airline or hotel we would prefer. After a day, we received an email with all details about our trip including: flight, car, and hotel.

June 18: Preparing the family for the trial requirements

As I said before, joining a trial is not an easy decision for anyone in the family. We discussed the opportunity with both of our sons, Wyatt and Wynston and they were both excited. Wyatt is so lucky to have such an empathetic brother who only wants the best for him. I am not saying it is easy at all for siblings…Wynston struggles with feeling left out, Patrick and I struggle with not being great parents for him and giving him enough attention. We try to make sure he gets his special time with us and his friends and our extended family where he can be the center of attention. Overall, special needs siblings seem to be a special breed and really do want the very best for their sibling/s.

We discussed the trial opportunity with Wyatt prior to agreeing to the trial. We told him what we hoped the medication would do for him. We explained to him all that would be required of him during the trial, including the MRI, blood draws, physical tests, and all the traveling. Once he agreed to the trial screening we talked about when this would happen. Wyatt lives with anxiety; as many boys with DMD do; so the more preparation we do the better for all of us. We give him time to discuss any questions he has and any fears he has prior to leaving for the visit. We decided that I would go with him for the first few visits. Normally, trials will pay for 1 guardian to accompany the participant so only 1 of us could join him. In earlier trials Patrick and I would take turns but since I now work part time remotely I have been the main companion for trials so Patrick does not have to miss work. We do end up swapping every once in a while, just to give the boys their own special time with the other parent, like going out to eat at the restaurant of their choice or going to see a movie. It’s nice to try and make the visits a little more fun than just the doctor appointment.

I do have to say even though clinical trials are hard work and are hard on the entire family’s emotions there are definitely some perks. We try to make sure we would build in some fun on most trips. That couldn’t happen all the time but most trips we did a little something. I am the parent who takes Wyatt to fun places like Disney World, a community zoo, a chocolate factory, just somewhere so it’s not always tests and doctors. Patrick on the other hand would upgrade the rental car to some fancy car for them to drive to the trial site. Luckily the previous trial paid for Wynston to join us so I made a point to do a special trip to an amusement park with them together. All in all we make the best of what we are given and never take a moment for granted.

June 24: Take Off Day

Since there are no direct flights from New Orleans to Gainesville, we prefer to fly to Orlando or Tampa and drive to Gainesville. We like to get in the day before to give some rest and get settled for the big day that awaits tomorrow. I try to pack light as possible. Just the necessities and of course the ipad, headphones and my work computer. We don’t like checking bags because just waiting for the bags increase Wyatt’s anxiety. So instead, it’s carry-ons and going through an airport with a child in a wheelchair, 2 bags and a service dog, but we have become pros at it now. Even Wrigley, Wyatt’s service dog knows the routine.

We fly Southwest and since we pre-board and it’s open seating, Wrigley goes straight to his regular front seat. If you do travel with a wheelchair plan to gate check it so you can have it with you at your destination. I find it easier to call the airline before so they can nottate the wheelchair and service dog on our reservation. As of now, Wyatt can transfer himself but some of our friends use a lift to help transfer their child to their seat.

June 25: Screening Day

Our appointment was scheduled at 10:00am. In our experience, the screening takes the longest. For this study this is what was needed and expected:

  • Full discussion of the consent for the trial any and all questions are answered. Assent is obtained from Wyatt since he is a minor.
  • Wyatt then had to get labs drawn (fasting labs). That’s a long time to be fasting until 1045 a.m. but he did it. Wyatt had eight tubes of blood drawn. He then had vital signs taken, height and weight and a urine sample was given.
  • A cardiac echo and three EKGs were completed.
  • A physical assessment was then performed by the nurse practitioner.
  • Physical therapy was then performed: this trial included the North Star Assessment. We were told beforehand that he needed to be able to go up 4 steps in less than 8 seconds and get up from the floor from a lying position in less than 10 seconds. We did test these things at home to make sure we were not wasting anyone’s time if he could not complete those 2 activities.
  • Wyatt and I had to complete a survey which included questions regarding what he can and can’t do and how hard activities are for him. It also includes questions regarding what we think the treatment could do and what we hope it will do.
  • Wyatt then completed the 6 minute walk test.
  • After his last break, he then had to do PFTs. Due to COVID, he had to perform these outside and he was sweating like a little pig but he did it without too much complaining.
  • Lastly, a discussion with the coordinator regarding the timeframe for determination if in the trial. Also what the next steps would be if he does get in…which includes another visit in 2 weeks along with a repeat of the 4 step test and MRI.

July 1: The Call, he qualified to move to next screening phase

That Wednesday, I received a call from the coordinator and Wyatt was accepted into the trial. Wyatt and I were so happy that he was moving to the next phase. We were nervous with the traveling involved because of the current pandemic but we knew this was a good opportunity and worth the risk. My husband on the other hand was a little more ambivalent. After being in a few trials and hearing of so many others that have failed he has a harder time getting his hopes up. Wynston was also happy for Wyatt but he did question what was going to happen to him since the pandemic was keeping him away from his grandparents who would normally help out. So after making a plan for all of us we celebrated the news with a swim in our pool and some ice cream.

July 9: 2nd screening visit

The coordinator gave us a timeline, which included staying over the weekend with nothing to do especially with the virus going on. I emailed the travel coordinator and before plans were made they were changed. That’s the thing with trials things can change on a dime and you have to be flexible. The timeline changed where we had to fly in a day earlier because 1 test needed to be completed before 2 weeks were up. So we will be there Wednesday, for a 10 min test on Thursday and then an MRI on Friday at 2. That means we can’t fly home til Saturday. Again flexibility is key. Luckily I can bring my computer and work while we are traveling.

On Thursday we went to the clinic for literally less than 10 minutes for Wyatt to repeat the 4 stair climb. They compared his time with the time it took him at the first screening visit…to continue it needed to be plus or minus 1 second. He met the criteria! We then took some time to visit a park near the clinic and swim at the hotel. It was so hot and the pandemic is still happening so there was not much else to do.

The next morning we had to check out of the hotel. We had to figure out something to do because the check out was at 11am and the MRI was not til 2pm. Luckily we found a beautiful botanical garden close by and decided to go check it out. We then had lunch and waited in the parking lot til we could go in for the MRI. Again, the pandemic has made many changes including no waiting rooms. Once the MRI was complete Wyatt was pretty tired, so we hopped back in the car and headed to the hotel at the airport in Orlando. We settled in and talked about how much we hoped that he would get into the arm of the trial where he would receive the actual drug and not the one where he could be on a placebo for 18 months. Wyatt was so ready to be home, he really doesn’t like traveling very much especially for a 3 night visit, but we made it through without any tears. The multiple chick-fil-a meals probably helped.

Once we got home, I knew we had til Tuesday or Wednesday before we got the call telling us which arm of the trial he qualified for. Obviously waiting is not easy, but you have no choice, it is out of your hands.

July 14: Acceptance day

Around 2:00pm I got the call from the trial coordinator. All I hear is he will be in the open label part of the trial… I almost started crying. I had to stop her from talking any more because I wasn’t listening. I told her, “Stop, I can’t even tell you how happy I am to hear this… now can you please repeat everything you just said because I stopped listening when you said open label.”

When I told Wyatt he was ecstatic. He couldn’t wait to tell everyone that he made it and he was going to actually get the medicine. When he told Patrick I could tell that Patrick’s perspective changed a bit from earlier weeks. The possibility of a placebo for 18 months is a necessary part of clinical trials but having our 14-year-old who is still walking, it was a scary possibility. So once he knew it was the actual drug, Patrick was just as happy as we were. Sometimes everyone in the family is not on the same page at the same time but that is also part of the process and things that need to be addressed when thinking about getting into clinical trials.

The coordinator then went through the expectations of the next few steps. Since we had a family vacation planned the next week and school was starting I did request if we could wait an extra week before going back for the first dose of the medication. Remember, these pharmaceutical companies want you in their trial if you meet the criteria so if you have special requests don’t be afraid to ask, most of the time they can figure out an accommodation.

August 10: Dosing visit and ANOTHER bump in the road

Prior to flying to the clinical site for dosing day we have to prepare mentally and logistically. As a family, we talked about the expectations we have about travel dates and the medicine. We had to make sure school transportation was set up for Wynston, since it is just his second day of school. We discussed the medication and what the events of dosing day would be. The less surprises for Wyatt the smoother the day goes. We are very happy to be in the trial and know that we are blessed to have such a trailblazer as a son and a village that helps to make sure the rest of the family is taken care of at home.

We arrived for his visit right on time and the trial coordinator brought us back to the room. She started with saying we are so glad yall are back but unfortunately we cannot give him the medication today. His platelet level was below the dosing criteria. I was told in prior visits that one of the side effects was thrombocytopenia (low platelet level). Well they didn’t realize his level was below the threshold til the morning we arrived. So we signed the consent form and made plans for the next steps. He still had to do all of the tests because if his labs come back higher he can start the medication.

Visit Tests included:

  • Labs
  • Urine sample
  • Physical assessment
  • Vital Signs
  • Physical therapy tests

We then headed back to the hotel. We were expected to spend a night after his first dose so instead of heading home we waste some time in FL. If Corona wasn’t happening we would have done something fun but not this time…we just sit in our room, watch TV and eat. Wyatt and I did talk about how we felt about the newest hurdle and he just said, oh well hopefully my labs will come back better. I told him, “you know how it goes, there is always a reason things happen, we will just have to wait and see why it happened this time.”

While sitting in the room I wanted to get Wyatt’s perspective and piece of advice for those who are thinking about participating in clinical trials:

  • How do you feel about participating in clinical trials? I don’t really like all of the traveling (except I am with my mom and I get to miss school a lot) and I don’t like the lab tests but I hope that the trials will eventually find a cure for me and other boys with Duchenne.
  • What has been your favorite memory or trip while participating in a clinical trial? I love when my parents figure out how to get all of us to the trial. We have made trips to Daytona Beach and Miami extending our trial visit.
  • What piece of advice do you have for another boy with Duchenne who is considering participating in a trial? Trials are not always easy but I think that I don’t fight with the people who are doing the tests, like labs and physical therapy tests. The faster I get it done the faster it is over and I can go home.

August 12: Another hiccup but a good one

The trial coordinator called this evening with some good news. His platelet level was higher but not to the level that they initially told me. She then said that Wyatt was their oldest participant and they did not realize that there was a different range of platelet levels for different age groups. So with that he was given the green light to give his first dose. We reviewed the protocol for giving the med…

  • Shake for 30 seconds
  • Give on a full stomach
  • Give it twice a day
  • Figure out where to get an EKG since we are not at the visit site and the home health nurse did not have an EKG machine yet…it should be performed 2.5 hours after the dose (plus or minus 30 min)
  • Platelets will be monitored closely with labs drawn by the home health nurse next week

August 13: Dosing Day

I told myself to take a deep breath and then started planning how to get the EKG and get it at the time we needed. We decided to wait till the next day. I reached out to the pediatrician…they don’t have a machine. I emailed the cardiologist, his nurse is amazing! She called me immediately, asked me when we needed it and she ordered it. Wyatt took the first dose and we drove to the clinic a few hours later to get it done. What a relief…he has actually started his 3rd trial in 5 years! My little trailblazer!

I just want everyone to know that we continue to choose to participate in trials because we feel it is important for our morale and for our community to continue to figure out how to help our children impacted by Duchenne. Just know that there are so many families out there that have joined trials and would say that they would not change it for the world. We know that the trial may not be the cure but it may eventually become part of the cocktail to help our children live a better life. We are hopeful for the future and know that even if things do not work out we are pushing science forward and waiting anxiously for the cure.

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