It was promising to hear that the FDA approved delandistrogene moxeparvovec-rokl (Elevidys®) late this June. Delandistrogene moxeparvovec-rokl is the first gene therapy for pediatric patients with Duchenne muscular dystrophy (DMD). Simultaneously, reading this and previous headlines touting an innovative new drug for the disease can trigger additional thoughts for me on the matter.
It’s like the release of a popular tech product. There is excitement about its launch, but I realize there will likely be some kinks that need to be worked out to reach its true potential.
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Treatments for DMD have made great advances over the years. The use of corticosteroids has been instrumental in delaying disease progression and increasing life expectancy significantly. This also puts me in a kind of limbo. My disease is progressing, and at the same time, there is hope I have that a more permanent solution like gene therapy could become an option with the apparent years steroids are buying me.
A risk/benefit model should be considered when choosing whether to pursue a new treatment. In the case of delandistrogene moxeparvovec-rokl, data from a randomized clinical trial showed a reasonable likelihood of clinical benefits, which was enough for the FDA to grant accelerated approval. One of the potential risks includes acute liver injury, which will likely be monitored in trial participants. I haven’t personally been in a position to be part of a drug trial, but I could imagine this would make it a little harder for a family to decide whether or not to take part, especially with the patients being so young.
I’m aware that any treatment will probably have risks. In my case, long-term use of steroid medication has had drawbacks. It’s easier for me to get a broken bone than an average person since prednisone can lower bone density. It also led to me developing cataracts in my eyes that impacted my vision significantly until I got surgery a couple of years ago. However, I’m willing to live with this since I think the benefits outweigh the risks.
I haven’t been able to participate in a clinical trial for a DMD drug because there have typically been parameters that exclude me. Such a wide range of specific mutations leads to the lack of the protein dystrophin that many of the DMD therapies developed have only been geared towards a small percentage of people with the disease. With delandistrogene moxeparvovec-rokl, only those 4 to 5 years of age can enter the trial.
I’m not saying that I’d recommend avoiding clinical trials for gene therapies like delandistrogene moxeparvovec-rokl. Each patient’s situation is unique, and this treatment might very well greatly diminish the effects of the disease for some. I do see this as an essential step forward, however. My father told me that when he attended a conference 20 years ago presenting research, families were frustrated by a perceived lack of options. So much progress has been made since then that I believe something closer to a cure is possible someday.
