Spinal Muscular Atrophy (SMA) causes progressive muscle weakening due to motor neuron loss. Once limited to supportive care, recent breakthroughs like Spinraza, Zolgensma, and Evrysdi now offer promising treatment options, improving patient outcomes and quality of life.
Understanding Spinal Muscular Atrophy
SMA is caused by mutations in the SMN1 gene, which is responsible for producing the survival motor neuron (SMN) protein. This protein is essential for motor neuron health, and its absence leads to muscle weakness and atrophy over time. SMA presents in different types, with Type 1 being the most severe and often diagnosed in infancy, and Type 4 being the mildest form, usually diagnosed in adulthood.
New Treatment Options for SMA
The most significant recent developments in SMA treatment come from advanced therapies that target the root cause of the disease. Below are the latest FDA-approved treatments offering new hope to individuals with SMA:
1. Spinraza (Nusinersen)
Spinraza was the first drug approved for SMA in 2016. It works by increasing the production of the SMN protein from the backup SMN2 gene, which individuals with SMA still possess. Spinraza is administered through an intrathecal injection (directly into the spinal fluid) and requires several doses per year after an initial loading phase.
Clinical studies have shown that Spinraza improves motor function and slows disease progression in both infants and adults. It is a long-term treatment, and regular dosing is required to maintain its benefits.
2. Zolgensma (Onasemnogene Abeparvovec)
Zolgensma, approved in 2019, is a one-time gene replacement therapy that directly addresses the root cause of SMA by replacing the missing or defective SMN1 gene with a functional copy. This therapy is administered as a single intravenous (IV) infusion, primarily for infants under the age of two. However, research is ongoing to assess its potential for older patients.
Zolgensma has shown dramatic improvements in young children, often enabling them to achieve motor milestones such as sitting and walking that would not have been possible without treatment.
3. Evrysdi (Risdiplam)
Approved in 2020, Evrysdi is an oral medication that also targets the SMN2 gene to boost the production of the SMN protein. This is the first SMA treatment that can be taken at home, offering a more convenient option for patients. Evrysdi is approved for use in both children and adults with SMA, making it a versatile option for long-term care.
Studies show that Evrysdi improves motor function and helps slow disease progression in a wide range of SMA patients, including those with later-onset forms.
Have SMA? Here’s What to Do Next
If you’ve recently been diagnosed with SMA or suspect you might have it, here’s what you should do to take control of your care:
- Consult a Neurologist: A neurologist specializing in neuromuscular disorders is essential in diagnosing and managing SMA. They can confirm the diagnosis through genetic testing and determine the type of SMA you have.
- Explore Treatment Options: Based on your age, type of SMA, and disease progression, your doctor will help you choose the most appropriate treatment. Spinraza, Zolgensma, and Evrysdi are currently the leading options. Your treatment plan may involve one of these therapies or a combination of treatments depending on your needs.
- Physical Therapy and Assistive Devices: While drug treatments can slow disease progression, physical therapy is critical for maintaining muscle strength and mobility. Work with a physical therapist to develop a personalized exercise plan. Depending on your level of motor function, assistive devices like braces, walkers, or wheelchairs may also be recommended to improve daily life.
- Join a Support Network: Living with SMA can be challenging, but you’re not alone. Join patient support groups, both online and in-person, to connect with others who have similar experiences. These groups can provide emotional support, practical advice, and updates on new treatments.
- Stay Informed: Medical research is continuously advancing, with ongoing clinical trials exploring even more innovative treatments for SMA. Stay in close contact with your healthcare team to learn about new therapies that may become available in the future.
Learn More About SMA
The landscape of spinal muscular atrophy treatment has transformed in recent years, offering new hope for individuals living with the disease. Spinraza, Zolgensma, and Evrysdi represent major advances in therapy, helping to slow or even stop disease progression. If you or a loved one has been diagnosed with SMA, consulting a neurologist, exploring treatment options, and seeking a support network are key steps in managing the condition and improving quality of life.