Standing by Our Decision: How EXONDYS 51 Became Part of Our Treatment Plan

This content is sponsored by Sarepta Therapeutics and is intended for US audiences only. Any other present or future content posted by the contributors, not expressly designated as “Sarepta Therapeutics-sponsored content,” is not associated with Sarepta. Dave’s son Xavier is an actual patient who is taking EXONDYS 51 (eteplirsen).

The information provided here is general in nature and is not intended to be a substitute for professional medical advice, diagnosis, or treatment. You are strongly encouraged to seek the advice of your doctor or other qualified healthcare provider with any questions regarding a medical condition.

This content discusses Xavier’s experience with EXONDYS 51. Individual results may vary.

Please see Important Safety Information below and full Prescribing Information on EXONDYS51.com.

Xavier is Living a Busy Life with Duchenne

My 20-year-old son Xavier is a such a special young man, and my wife and I both love spending time with him. Xavier and I start each day together with a cup of coffee and some conversation in our garage/man cave. Jennifer and Xavier look forward to going to church together on Saturday evenings. And as a family, the three of us—along with our 13-year-old son Varyk—enjoy playing board games, eating barbecue, and following the Kansas City Chiefs football team.

Xavier takes pride in helping out around the house. He cares for our dog Ladybell, helps out with household chores, brings the mail in from the mailbox, and prepares some of his own meals. Contributing to our household is important to him, and we are glad that even though he uses a wheelchair, he maintains much of the independence that means so much to him.

Learning About Treatment Options

There were no treatment options approved for Duchenne when Xavier was diagnosed with Duchenne at age 4 in 2001. But that didn’t stop us from learning everything we possibly could about Duchenne and educating ourselves about clinical trials for potential Duchenne treatments.

One day in 2014, when Jennifer was doing some research, she came across a clinical trial for eteplirsen, the treatment now known as EXONDYS 51. This was about 11 years ago, when Xavier was 9 years old. She was so excited about it that she immediately reached out to the clinic that was involved in the trial and asked if Xavier could join. When the study team determined that Xavier was amenable to exon 51 skipping and met all of the qualifications, he was accepted into the trial. We were so happy.

EXONDYS 51 is not a cure for Duchenne, and it won’t stop the progression of the disease. But we feel optimistic about EXONDYS 51 because exon-skipping technologies strive to address the underlying issue with Duchenne—a lack of the dystrophin protein. The aim of exon-skipping treatment is to help the body produce a shortened form of dystrophin.

Deciding on Treatment

The clinical trial team explained the potential risks of this treatment, but we knew it was the most appropriate choice for Xavier. Even though Xavier was just 9 at the time, we talked with him about it, and he was 100% on board. He wanted to join the trial for himself, but also for all the other boys who live with Duchenne. He has always wanted to help others.

Xavier was in the clinical trial for about two years. When EXONDYS 51 was up for approval by the FDA in 2016, we flew to Washington, D.C., to advocate for it. There were 12 boys in the study Xavier was in, and all 12 of them and their families traveled to Washington to lobby the FDA. It was an amazing experience to see all those people from the Duchenne community fighting together and supporting each other. EXONDYS 51 didn’t receive approval right away, but when it was approved (under accelerated approval) three months later, Xavier’s doctor prescribed it for him.

Fast-forward to today: Xavier has been on EXONDYS 51 for 11 years, and he has chosen to stay on it because we feel it’s helping him.

Managing Weekly Infusions

When Xavier was in the clinical trial for EXONDYS 51, we drove two to three hours each way to the trial site for his weekly treatments. Then when the trial ended and Xavier’s doctor prescribed it, a nurse started coming to our home to administer EXONDYS 51. Having infusions at home is nice because it’s comfortable for Xavier to be in his own surroundings, and we don’t have to make those long drives.

Xavier receives EXONDYS 51 via a port implanted in his chest. At first he received intravenous (IV) infusions, but nurses sometimes had trouble finding a vein, so we agreed with his doctor when she suggested a port. Having a port works well for Xavier because it can be accessed easily.

Xavier’s weekly visits with the nurse—usually on Thursdays—fit easily into Xavier’s life. We’ve had the same nurse for about five years. We know her well, and Xavier is very comfortable with her.

11 Years of Treatment with EXONDYS 51

Xavier’s weekly infusions have become a normal part of our lives, and Sarah, our SareptAssist Case Manager, calls regularly to check in on us and see how his infusions are going. Our Case Manager helps us stay on top of reauthorizations and answers any questions we may have. We love how much support we’ve gotten from SareptAssist and our Case Manager over the years.

Navigating insurance with a chronic therapy does have some ups and downs. But we are able to manage it with the support of our Case Manger, who helps us to continue accessing this therapy.

It’s important to us that Xavier maintains as much independence as possible. We want him to continue doing things that are meaningful to him, like helping around the house, going to church, caring for Ladybell, and enjoying our family game nights.

Our advice to other parents is to learn as much as possible about Duchenne and its treatment options. Ask lots of questions. And never stop advocating with your care team. As we learned with Xavier, knowing your stuff and speaking up are the best ways to get tailored care.

For more information about EXONDYS 51, visit EXONDYS51.com. 

EXONDYS 51 (eteplirsen)
Indication and  Important Safety Information 

What is EXONDYS 51 (eteplirsen)?
EXONDYS 51 is used to treat patients with Duchenne muscular dystrophy (DMD) who have a confirmed mutation in the dystrophin gene that can be treated by skipping exon 51.

EXONDYS 51 was approved under accelerated approval. Accelerated approval allows for drugs to be approved based on a marker that is considered reasonably likely to predict a clinical benefit. EXONDYS 51 treatment increased the marker, dystrophin, in skeletal muscle in some patients. Verification of a clinical benefit may be needed for EXONDYS 51 to continue to be approved.

IMPORTANT SAFETY INFORMATION

Hypersensitivity Reactions: Allergic reactions, including wheezing, chest pain, cough, rapid heart rate, and hives have occurred in patients who were treated with EXONDYS 51. Seek immediate medical care if signs and symptoms of allergic reactions occur.

Adverse Reactions: Side effects that have occurred at least 25% more often in patients treated with EXONDYS 51 than in patients treated with an inactive intravenous (IV) infusion were problems with balance (38%, 0%), vomiting (38%, 0%), and skin irritation (25%, 0%). The most common side effects were problems with balance and vomiting.

The most common side effects that occurred in greater than 10% of patients receiving EXONDYS 51 in other clinical trials were headache, cough, rash, and vomiting.

What do I do if I have side effects?

Ask your healthcare provider for advice about any side effects that concern you.

You are encouraged to report negative side effects of prescription drugs to the FDA. Visit www.fda.gov/medwatch or call 1-800-FDA-1088. You may also report side effects to Sarepta Therapeutics at 1-888-SAREPTA (1-888-727-3782).

The information provided here does not include all that is known about EXONDYS 51. To learn more, talk with your healthcare provider.

Before receiving this infusion, please see the full Prescribing Information for EXONDYS 51 (eteplirsen).