Treatment of spinal muscular atrophy (SMA) involves disease-modifying treatments together with supportive care.1,2
Today, thanks to newborn screening, Spinal muscular atrophy (SMA) can be detected and treated early enough to change the natural course of the disease. Extensive research and advances have brought hope and possibilities to people living with SMA.1,2
The characters shown are real patients and the required consent to use their stories has been obtained from the patients and families. Photographs are for illustrative purposes only.
The image used is a stock photo, not real patients.
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EARLY TREATMENT
SMA is a progressive disease, gradually destroying nerve cells in the brain stem and spinal cord.1 Before the first disease-modifying treatment was approved in 2017, diagnosis with SMA meant a gradual weakening of muscles leading to deteriorating disability or death.1,3,4
Although there is still no cure for SMA, disease-modifying therapies are available. There is evidence that babies with SMA who are diagnosed and treated early will have greatly improved outcomes.1,5 Therefore, screening for SMA at birth is key because an early diagnosis opens the doors to early treatment and the possibilities that come with it.5
The image used is a stock photo, not real patients.
CURE SMA GUIDELINES UPDATE
Cure SMA is a group of expert clinicians and scientists who came together to lead the way to a world without SMA, providing support for those affected by the disease.6
Cure SMA recommends immediate treatment for all newborns diagnosed with SMA.7
This recommendation was previously only for newborns with 2 or 3 copies of the SMN2 gene. However, in 2020 Cure SMA updated its guidelines to include SMA infants with 4 copies of SMN2.7
What are the different types of SMA and what does the copy number mean?
Treatment means the best possible medical care. It should be a shared decision between parents and the SMA care team.5
SMA CARE
SMA is a complex disorder, and each child is affected differently depending on the type of SMA they have.2
SMA care usually involves a disease-modifying treatment together with supportive care.1,2 A supportive care team of medical specialists is recommended to deal with the medical challenges associated with SMA and can be coordinated by a primary care physician.2
THINGS TO CONSIDER WHEN MAKING TREATMENT DECISIONS
It may feel overwhelming and stressful to gather the information you need during this time, and you likely feel under pressure to make a treatment decision quickly. To help you navigate the situation, we have compiled a list of questions which you can take into the conversation with your doctor.
When discussing treatment options with your doctor, it is a good idea to list your questions in order of importance, so if your time with your physician is limited, you will have the opportunity to ask the questions that are most important to you.
The image used is a stock photo, not real patients.
WHAT TREATMENT OPTIONS ARE AVAILABLE FOR SMA?
SMA is a progressive disease. Without intervention, symptoms will worsen over time. The earlier treatment can begin, the better the outcome will be.1,5
Three disease-modifying treatments are currently approved to treat SMA in children5
They all work by raising levels of SMN protein in the body, but they have different efficacy and safety profiles, and administration requirements3,8,9
Nusinersen:
Nusinersen, available since 2017, is indicated for the treatment of 5q SMA in all age groups. It is given by injection to the lower back (called a “lumbar puncture”).3
Onasemnogene abeparvovec:
Onasemnogene abeparvovec is an injection directly into a vein and into the bloodstream (intravenous injection) indicated as a treatment of SMA. It has been a treatment option since May 2020.8
Risdiplam:
Receiving EU approval in March 2021, risdiplam is used to treat SMA in patients 2 months or older who have SMA types I, II, or III. It is given orally once a day after a meal.9
Questions to ask your doctor
It is always better to direct any queries you might have about how these treatments work to your doctor. Here are some guiding questions you may want to use when you next speak to your doctor about your child's SMA treatment.
How do you determine who can or cannot receive a particular treatment?
Are there any prerequisites that need to be met before treatment can start?
What do parents with children on the same treatment have to say about it?
Are there any side effects that I should be aware of?
How will this treatment help my child reach our treatment goals?
How will I know if the treatment is working for my child?
Is there data about what I can expect with this treatment in the long term?
What happens if the treatment does not work?
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SWITCHING SMA THERAPIES
If it is necessary for your child to switch from one therapy to another, your doctor will discuss the progress made on the current therapy and what the expectations are with a switch-over.
This is especially true for babies and young children with SMA, since they have more treatment options available to them. When it comes to side effects, these will differ depending on the therapy. Please consult with your your child's doctor.
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Need help with SMA terminology?
Access our SMA glossary
The characters shown are real patients and the required consent to use their stories has been obtained from the patients and families. Photographs are for illustrative purposes only.
7. Glascock J, Sampson J, Connolly AM, et al. Revised recommendations for the treatment of infants diagnosed with spinal muscular atrophy via Newborn Screening who have 4 copies of SMN2. J Neuromuscul Dis. 2020;7(2):97-100.
8. Zolgensma, Summary of Product Characteristics, 2022.
9. Evrysdi, Summary of Product Characteristics, 2021.
