Although there’s currently no cure for spinal muscular atrophy (SMA), treatments and therapies are available. That means there are plenty of ways to focus on achieving the best possible quality of life. People with SMA rely on treatment and therapy options to live as comfortably and productively as possible.
But with so many variations in symptoms and severity, how do you know what’s best for you or your loved one? Below are four questions to ask your healthcare provider, to help you determine the right options for your circumstances.
It’s important to be able to do things that you enjoy and explore interests that fit with your physical abilities. The severe muscle weakness and atrophy caused by SMA don’t just affect physical strength. They can also seriously affect the ability to breathe, swallow, and sometimes speak.
Staying as active as possible is vitally important to slowing SMA’s progression and maintaining a high quality of life. Physical therapy can help with posture, prevent joint immobility, and help maintain strength. Stretching exercises can help reduce spasms and improve range of motion and circulation. Applying heat may temporarily ease muscle pain and stiffness.
As SMA progresses, therapies for problems with speech, chewing, and swallowing are available. Assistive devices can help a person who has SMA walk, talk, and eat, which may enable them to maintain their independence.
Muscle pain and spasms, decreased range of motion, and issues around chewing, swallowing, and drooling can be treated with prescription drugs.
Depression and anxiety are two indirect effects that are common with SMA. Speaking with a counselor or therapist may be a good way to address these issues. In some cases, appropriate prescription drug support is an option.
Nusinersen (sold under the brand name Spinraza) was the first FDA-approved SMA treatment. It isn’t a cure for SMA, but it may slow the condition down. An article published in The New England Journal of Medicine reports about 40 percent of those who took this medication experienced a slowing of the progression of the disease. Many participants also reported improved muscle strength with the drug.
Onasemnogene abeparvovec (sold under the brand name Zolgensma) was FDA-approved in 2019. It’s a gene therapy for children under 2 years old. It treats the most common types of SMA. Clinical trial participants saw better muscle movement and function and were able to achieve milestones such as crawling and sitting.
Spinraza and Zolgensma are among the most expensive drugs in history. However, you can check with your insurance provider to see whether they cover these drugs. You may also be able to receive financial assistance through the manufacturers’ patient assistance programs.
Initial treatments of Spinraza are priced at $750,000. Subsequent treatments may add up to hundreds of thousands of dollars more. A one-time dose of Zolgensma costs $2,125,000.
Your healthcare provider should help you understand all the potential benefits and risks associated with these drugs before you accept treatment.
Many people living with SMA are interested in clinical trials, hoping for improvement in their condition or even a cure. But clinical trials are often complex and may be less helpful than people hope. While the ultimate goal is always an effective treatment available on the open market, that’s not the outcome for most trial drugs.
In fact, most trial drugs never receive FDA approval. In 2016, an independent and validated study revealed a surprising trend: FDA approval on trial drugs has declined dramatically since 2004 to around 10 percent. In other words, for every 100 drugs that apply for approval, only 10 make it through the process. That includes drugs that might treat SMA. According to the nonprofit organization Cure SMA, the top reasons for failure are safety issues, lack of effectiveness, and manufacturing issues.
Trial participation is a personal decision, and you should weigh your options carefully against the risks. Your healthcare provider can help you find any studies you qualify for, but it’s important to manage your expectations. Trials do have some upside potential, but there are potentially unknown health risks. Most people don’t see significant results.
You can find a complete directory of active U.S. trials at ClinicalTrials.gov.
Many universities, hospitals, biotechnology scientists, and commercial pharmaceutical companies are actively in search of better ways to treat SMA. Until then, understanding your options and making informed choices about your treatment can be powerful ways to help you manage your symptoms and live your best life.