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Adult SMA

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A LOT HAS CHANGED IN THE MANAGEMENT OF SPINAL MUSCULAR ATROPHY (SMA).

There are now new options for the care and management of your condition.

ASK YOUR DOCTOR FOR A SPECIALIST REFERRAL TODAY

Read below to find out more:

Are you receiving the most up-to-date standards of care?

A lot has changed in the quality of care offered to people living with SMA1,2

Ongoing research is providing an ever-increasing understanding of the science behind SMA and care options.1–3

There has been considerable research into SMA in recent years:4–7

increase in scientific papers
on SMA between 2010 and 2018*5,6

clinical trials currently
studying SMA*7

This momentum has created far-reaching changes in the care and management of people living with SMA.1,2


SMA standards of care have been updated

Since the first Standards of Care publication in 2007, increasing evidence has shown that people living with SMA can expect better outcomes than ever before.

The 2017 update includes changes to the management and care you can expect to receive, helping you, your caregivers and healthcare professionals understand the different aspects of supportive care for SMA.2,3

YOU ARE PLACED at the very centre of care.

See our summary of the latest SMA standards of care for sitters:

See our summary of the latest SMA standards of care for walkers:

*Accurate as of 18 November 2019

Why is disease stabilisation important?

WITHOUT INTERVENTION, people living with type II/III SMA will see progression of their disease over time8,9

YOUR PERSPECTIVE MAKES A DIFFERENCE

Your perspective and experiences with SMA are critically important in the development of new therapies.9

In 2015, a European survey was completed by people living with type II/III SMA and by caregivers. The results showed that:9

FELT THAT A MEDICINE THAT WOULD STABILISE THEIR DISEASE COURSE WOULD REPRESENT
MAJOR PROGRESS

The top three abilities they chose to preserve were:

The top three abilities they chose to improve were:

See our summary on what other people affected by SMA think about the disease:

For people living with SMA, care outcomes today are better than they’ve ever been.1

Disease stabilisation and improvements in daily life are becoming possible.11,12

Have you had a genetic test?

It’s important to get your condition diagnosed by a genetic test1
IF YOU HAVE ALREADY HAD A TEST, SPEAK TO YOUR DOCTOR TO ENSURE YOU ARE RECEIVING THE MOST APPROPRIATE CARE

In order to confirm SMA, a specialist neurologist requests a blood test that looks for specific alterations in your DNA – this is also referred to as an SMA gene‑deletion test.3,13,14

 

Why it is important to get a genetic test done as soon as possible:

  • Delays in diagnosis are common, this can potentially impact your care and treatment15
  • You may be eligible for care options, although these may only be suitable for a specific genetic diagnosis16
  • You may have a condition that is not SMA but has similar characteristics (e.g. multifocal motor neuropathy), and you may need to receive different care options17

95‑98%
OF CLINICALLY DIAGNOSED SMA PATIENTS HAVE AN ALTERATION IN THEIR SMN1 GENE.14

The SMN gene-deletion test is performed by several diagnostic laboratories. It can take approximately 2–4 weeks to receive results, though this may vary by centre.13

Need to find an SMA specialist near you?

Now is the time to find out how the latest changes to SMA management could potentially benefit you

Ask your doctor for a referral to an SMA specialist

CLICK YOUR COUNTRY BELOW TO ACCESS THE SMA SPECIALIST FINDER TOOL.

You might find it helpful to discuss this with your doctor when you ask for a referral.

References

1. Mercuri E et al. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018;28(2):103-115. 2. Finkel R et al. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord. 2018;28(3):197-207. 3. Bharucha-Goebel D, Kaufmann P. Treatment Advances in Spinal Muscular Atrophy. Curr Neurol Neurosci Rep. 2017;17(11):91. 4. Juntas Morales R et al. Adult-onset spinal muscular atrophy: An update. Rev Neurol (Paris). 2017;173(5):308-319. 5. National Center for Biotechnology Information. PubMed website. Available at: https://www.ncbi.nlm.nih.gov/pubmed/?term=(((spinal)+AND+muscular)+AND+atrophy)+AND+(%222018%2F01%2F01%22%5BDate+-+Publication%5D+%3A+%222018%2F12%2F31%22%5BDate+-+Publication%5D). Accessed 18 November 2019. 6. National Center for Biotechnology Information. PubMed website. Available at: https://www.ncbi.nlm.nih.gov/pubmed/?term=(((spinal)+AND+muscular)+AND+atrophy)+AND+(%222010%2F01%2F01%22%5BDate+-+Publication%5D+%3A+%222010%2F12%2F31%22%5BDate+-+Publication%5D). Accessed 18 November 2019. 7. ClinicalTrials.gov Search for ‘Recruiting, Active, not recruiting, Enrolling by invitation Studies | Spinal Muscular Atrophy’ Available at: https://clinicaltrials.gov/ct2/results?cond=Spinal+Muscular+Atrophy&Search=Apply&recrs=a&recrs=f&recrs=d&age_v=&gndr=&type=&rslt=. Accessed 18 November 2019. 8. Kaufmann P et al. Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology. 2012;79:1889-1897. 9. Rouault F et al. Disease impact on general well-being and therapeutic expectations of European Type II and Type III spinal muscular atrophy patients. Neuromuscul Disord. 2017;27(5):428-438. 10. Wan H et al. “Getting ready for the adult world”: how adults with spinal muscular atrophy perceive and experience healthcare, transition and well-being. Orphanet J Rare Dis. 2019;14(1):74. 11. Walter M et al. Safety and Treatment Effects of Nusin­ersen in Longstanding Adult 5q-SMA Type 3 – A Prospective Observational Study. J Neuromuscul Dis. 2019;[Epub ahead of print]:1-13. 12. Day JW et al. Nusin­ersen Experience in Teenagers and Young Adults With Spinal Muscular Atrophy (SMA). Abstract #24. Presented at the Muscular Dystrophy Association Clinical Conference 2018. March 11-14, 2018. Arlington, VA, USA. 13. Wang CH et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22(8):1027-1049. 14. Prior TW, Finanger E, Leach ME. Spinal muscular atrophy. NCBI Bookshelf Website. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1352/. Updated November 14. 2019. Accessed November 2019. 15. Lin CW, Kalb SJ, Yeh WS. Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review. Pediatr Neurol. 2015;53:293-300. 16. NICE Technology appraisal guide [TA588]. 2019. Available at: https://www.nice.org.uk/guidance/ta588/chapter/2-Information-about-nusinersen. Accessed November 2019. 17. Visser J et al. Mimic syndromes in sporadic cases of progressive spinal muscular atrophy. Neurology. 2002;58(11):1593-1596.