SMA Treatments and Continuing the Fight
When Working On Walking began as a little lemonade stand over twenty years ago, the world we live in today was simply a dream. Treatments didn’t exist, research wasn’t being done, and awareness was sparse. Reflecting on these last couple of decades is truly overwhelming in the best possible way.
For many years, patients and their families had little hope after receiving a diagnosis of Spinal Muscular Atrophy (SMA). However, amazing advances in medical research and technology and the hard work of scientists and medical experts have changed that, and the SMA community is forever grateful. Since 2016 alone, the FDA has approved three treatments for SMA, improving the lives of many with SMA.
Today’s blog post explores the treatments currently available for SMA and what still needs to be done in the community. While we are heading, or leaping, tremendously in the right direction, it’s important to note that treatments are not the end-all for a disease as debilitating and persistent as SMA.
Spinraza
Spinraza was the first FDA-approved treatment for infants and adults, with SMA receiving approval in December of 2016. It was approved to treat infantile-onset SMA and SMA types 1, 2, and 3. This treatment increases the ability of cells to produce functional SMN protein from the SMN2 gene. It does so by binding to the messenger RNA of SMN2. Spinraza is administered by intrathecal injection or an injection directly into the spinal canal. Patients undergo an initial loading period of 4 doses; the first three doses are given every 14 days, and the 4th dose is given 30 days later. After the loading period, Spinraza is administered repeatedly once every four months. Learn more here >>
Zolgensma
This gene therapy treatment was approved in 2019 for all types of SMA for patients from newborn to age 2. Zolgensma is the first SMA gene therapy treatment provided through a single intravenous administration. The treatment uses a viral vector to deliver a working copy of the SMN1 gene to the motor neurons, allowing the patients to produce SMN continuously and sustainably. This treatment is a one-time treatment as patients develop antibodies to the treatment, which is common in gene therapies for other diseases that use a viral vector. Learn more here >>
Evrysdi
This drug (formally known as Risdiplam) is the newest treatment to be approved by the FDA and is the first oral treatment able to be given at home for infants, children, and adults with all types of SMA. The drug can be swallowed or administered through a feeding tube. Evrysdi works like Spinraza to increase SMN levels. SMN is a protein essential for muscle health that people with SMA lack. Evrysdi accomplishes this by boosting the ability of the SMN2 gene to produce more functional SMN protein. The drug can affect cells not just in the central nervous system motor neurons but also in the cells of tissues, organs, and muscles. The approval of the first oral at-home treatment is important because of the COVID-19 pandemic. Learn more here >>
It’s amazing to think that five short years ago, the treatments we have today were simply a glimmer of hope in our future. Nothing was certain. Time wasn’t on anyone’s side. Persisting forward in the face of adversity was the only choice we had.
So much has changed remarkably for the better in the last several years, but there is still work to be done.
1. Treatments are not cures. An adult who has lived with SMA for decades versus a child who was recently diagnosed will respond to treatments differently. This is because of the time discrepancy in how much the disease has been able to progress. Therefore, children will reap the most benefits while adults will likely experience weakness. But, there is good news. Studies are underway to discover various treatment options to repair muscle weakness demonstrated in adults. While in its early stages, funding these studies is crucial at this time.
2. Treatments aren’t widely accessible. Not all countries have access to these drugs. And those that do still have their challenges. Insurance companies deny a patient the right to receive treatment. Travel costs to treatment centers can be too expensive for some. Traveling, in general, may be inaccessible for some. Until the financial burden no longer infringes upon access to treatment, we must continue to pave the way. This isn’t just some treatment with a hefty price tag. This is a matter of life or death.