Treatments for SMA
There currently is no cure for SMA but treatments approved by the U.S. Food and Drug Administration (FDA)—including gene therapy—are making striking advances. Early treatment is key for SMA. Early detection and symptom management may reduce morbidity and improve the length and quality of life.
The FDA approved the first medication for treating SMA in 2016. Since then, two other drugs have received FDA approval and additional experimental gene therapy continues to be developed to replace or correct the SMN1 gene.
“If (medications are) initiated early they can significantly modify the natural course of the disease” (Schorling, Pechmann, & Kirschner, 2020).
Infants who test positive for SMA can be treated before the onset of symptoms when the outcomes of treatment are most significant. However, the timing and type of treatment for SMA depends on the type of SMA and disease symptoms. Without treatment, the resulting problems can worsen quickly and cause severe disability or death during childhood.
Approved drug and gene therapy treatments for SMA
| Name | Age range | Effects |
|---|---|---|
|
Nusinersen (FDA approval, 2016) |
Children and adults |
Injected via lumbar puncture into the cerebrospinal fluid and designed to increase production of the full-length SMN protein and prevent damage to nerve cells. Best outcomes when used early in the disease process. The dosing schedule begins with 4 initial loading doses; the first 3 occur in 14-day intervals and the 4th dose occurs 30 days after the 3rd dose. After these initial doses, maintenance doses occur 3 times a year. |
|
Onasemnogene abeparovec-xioi (FDA approval, 2019) |
Children 23 months and younger with infantile onset of SMA |
A one-time, virus vector-based gene therapy infusion delivers fully functional human SMN1 gene copies to the motor neurons to improve muscle movement and function as well as chances for survival. |
|
Risdiplam (FDA approval, 2020) |
2 months of age and older |
Improves chances of survival without permanent ventilation and achieve ability to sit without support. An oral medication and the first SMA drug that can be taken at home. It works to increase the SMN protein production from available SMN2 gene copies. Doses are once daily. |
Treatment and therapy for SMA is available through the Comprehensive Care Program, a component of Texas Health Steps. Individuals diagnosed with SMA also may be eligible for clinical trials for new and promising treatments. A link to the federal government’s website about clinical trials is provided in the Resources section.
In addition to medication, treatments for SMA include a number of other therapies and regimens. The International Conference on the Standard of Care for SMA published a consensus statement in 2007 with standard diagnostic and management guidelines for SMA that have been used widely. Neuromuscular Disorders published updated guidelines in 2018, which are still in use today.
Multidisciplinary Care for Individuals with SMA
Individuals with SMA should receive immunizations on schedule
All individuals who have SMA should receive all recommended immunizations, including COVID-19, pneumococcal and annual influenza immunizations.
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