Kevin’s Story


Expanding Clinical Trial Access for Adults with SMA

In 2017, I began a journey that was both exhilarating and terrifying. Toward the end of the previous year, the first treatment approved by the U.S. Food and Drug Administration for my disease became available. Called Spinraza (nusinersen), this therapy is designed to slow the progression of my disease by targeting the SMN2 gene.

I have lived with spinal muscular atrophy (SMA) type 2 my entire life, a neuromuscular condition that affects all of the voluntary muscles in my body. Though my disability has a profound impact on my life in myriad ways, the idea of actually undergoing a treatment process was daunting. While I was well accustomed to managing life with SMA, the world of experimental therapies and treatments was new territory for me. In all my years working with SMA specialists and being a part of the SMA community, I had never participated in any kind of clinical trial. To this day, I still haven’t.

When Spinraza was first developed and clinical trials began, the focus was on children and infants with SMA. Studies prior to the FDA approval were geared toward infants with types 1 and 2, with little to no emphasis on adults. Once the drug did receive approval in December 2016, it was quite a surprise to hear that it would be for SMA patients of all types and ages. This is honestly something my family and I never expected to happen in my lifetime.

Following this announcement, it was another 11 months before I received my first dose of Spinraza. Between insurance hassles, confronting my own anxieties about the injection process, and actually making the appointment, there were many factors that came into play before the radiologist stuck that first needle into my cervical spine. While Spinraza is traditionally administered via spinal injections, my specialists had to figure out an alternative method for me. Since I had spinal fusion surgery in 2005, it was too risky to go this route. Alas, I took a deep breath and allowed the doctor to stick the needle right in my neck. Check out my column for more details on the actual procedure.

Today, there are now three FDA-approved treatments for SMA, two of which are accessible for patients of all ages and types. The other is a gene therapy that’s currently just for infants. More adults in the community are receiving treatments and participating in clinical trials than ever before. Still, as medical advancements expand, it is essential to prioritize inclusivity within the realm of treatment access. Adults and children alike must be afforded access to clinical trials, both for the betterment of current and future generations.

When I went for my first injection in November 2017, I felt an equal amount of excitement and trepidation. With the support of my family and friends, my medical team, and my family access manager for Biogen (the company that manufactures Spinraza), I was able to overcome many of my anxieties and receive the information I needed about the drug and its potential side effects. I’m fortunate that I have many connections within the SMA community.

Going forward, I want all adults with SMA to have the same resources and medical access that myself and others have. This should not be considered a privilege, but rather a fundamental need within the medical community.

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