SMA affects everyone differently, therefore treatment goals and expectations will be different as well. It is important to consider these when you and your doctor discuss treatment options.
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.
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WHAT TREATMENTS ARE AVAILABLE FOR SMA?
SMA symptoms will worsen over time if you or your child do not receive any treatment.1,2 But what treatments are there?
A multidisciplinary approach is important. Neurologists or neuro-paediatricians work with the patients and/or families of those living with SMA, to coordinate the various aspects of care, such as physical therapy, and nutritional and respiratory care.3
In addition to this, there are treatments that target the disease directly. They are referred to as disease-modifying treatments, which have the potential to improve the disease. These treatments stabilise and/or slow down disease progression by increasing the level of the SMN protein.
A lack of SMN protein is a characteristic of SMA.4
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OVERVIEW OF APPROVED TREATMENT OPTIONS
Currently, there are three disease-modifying treatments for SMA that have been approved for use in the European Union (EU) for different age groups.5-7
Since SMA is a progressive disease, treatment is started as soon as possible after diagnosis to improve outcomes.8 The treatment chosen will depend on the age of the patient, the type of SMA, the number of SMN2 copies, and how the treatment works to increase SMN proteins in the body.4,9 What is also taken into account, is the patient/caregiver’s preferences regarding the route of administration, the presence of disease complexities (e.g. scoliosis) that may prevent them from taking any of the treatments, and whether the therapy is accessible to them.8
nusinersen
Nusinersen received EU approval in May 2017. It 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”.5, 8
Onasemnogene abeparvovec is an injection directly into a vein and into the bloodstream (intravenous injection) and is indicated as a treatment of 5q SMA type I or 5q SMA with up to 2 copies of SMN2. It received approval for use in the EU, in May 2020.6, 10
Receiving EU approval in March 2021, risdiplam is used to treat 5q 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.7, 11
Please note: these overviews are based on the EU product labels as of Nov 2022.
Other considerations
If it is necessary for you (or someone in your care), to switch from one therapy to another, your doctor will discuss the progress you have/have not made on your 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. Note that the side effects of each of these disease-modifying treatments will differ, and that your or your child’s doctor can provide more information about it, or you could read the respective SmPC (summary of product characteristics) for each product. Also, there are ongoing studies being done on these treatments, which you could ask your doctor about.
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TREATMENT GOALS & EXPECTATIONS
Each person with SMA has different treatment goals and expectations. It is important to discuss these goals and expectations with your (or your child’s) doctor. Once treatment starts, your doctor will be able to measure the progress made against these goals to see whether the current treatment is meeting the set expectations.
A study where patients and/or caregivers were interviewed, has shown that stabilising the disease and maintaining motor function, represents progress for people living with SMA.12
In this study, people living with SMA were asked about their treatment expectations and which symptoms they want their treatment to help stabilise or improve:13
Respondents with SMA Type I and II
prioritised treatment expectations around the following symptoms:13
Chewing and swallowing
Use of the arms
beyond general symptoms.
Respondents with SMA Type III
prioritised treatment expectations around the following symptoms:13
Use of the legs
Use of the arms
beyond general symptoms.
Have you set treatment goals for yourself or your child?
Here are some examples of what other SMA patients and caregivers have expressed as important treatment goals.
It is always better to direct any queries you might have about how these treatments work (or your child’s) to your doctor. Here are some general questions you may want to use when you next speak to your doctor about your or 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 other patients 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 me, or my child reach our treatment goals?
How will I know if the treatment is working for me / my child?
What can I expect in the long term with this treatment?
What can I do if the treatment does not work?
Are there any family planning considerations to be taken into account?
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.
References
1. Wadman RI, Wijngaarde CA, Stam M, et al. Muscle strength and motor function throughout life in a cross-sectional cohort of 180 patients with spinal muscular atrophy types 1c–4.
2. Vuillerot C, Payan C Iwaz J, et al. Responsiveness of the Motro Function Measure in Patients with Spinal Muscular Atrophy. Arch Phys Med Rehab 2013;94:1555–1561.
3. Mercuri E, Finkel RS, Muntoni F, et al. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromusc Disord 2018;28:103–115.
4. Evers MM, Toonen LJA, van Roon-Mom WMC. Antisense oligonucleotides in therapy for neurodegenerative disorders. Adv Drug Del Rev. 2015;87:90-103.
5. European Medicines Agency. SPINRAZA™ (nusinersen) Summary of Product Characteristics. May 2017.
6. European Medicines Agency. ZOLGENSMA (onasemnogene abeparvovec) Summary of Product Characteristics. May 2020.
7. European Medicines Agency. EVRYSDI™ (risdiplam) Summary of Product Characteristics. May 2021.
8. SPINRAZA. Summary of Product Characteristics (SmPC). Nusinersen solution for injection. Biogen. 30 May 2017.
9. Darras BT, Chiriboga CA, Iannaccone ST, et al. Nusinersen in late-onset spinal muscular atrophy. Long-term results from the phase 1 / 2 studies. Neurology 2019;92:e2492–e2506.
10. Zolgensma. Summary of Product Characteristics (SmPC). Onasemnogene abeparvovec solution for infusion. Novartis. 17 May 2022.
11. Evrysdi. Summary of Product Characteristics (SmPC). Risdiplam powder for oral solution. Roche. 26 March 2021.
12. Rouault F, Christie-Brown V, Broekgaarden R, et al. Disease impact on general well-being and therapeutic expectations of European Type II and Type III spinal muscular atrophy patients. Neuromusc Disord. 2017;27(5):428–438.
13. Meyer T, Maier A, Uzelac Z, et al. Treatment expectations and perception of therapy in adult patients with spinal muscular atrophy receiving nusinersen. Eur J Neurol. 2021;28(8):2582–2595. doi:10.1111/ene.14902.
