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.
*Accurate as of 18 November 2019
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 NEW CARE OPTION 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:
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
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:
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
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.
At Biogen, we are committed to supporting those with spinal muscular atrophy and their care team. Our hope for Together in SMA is that by providing information, we can help you get the most up-to-date care, and to help guide conversations with your doctor. Consulting with your doctor will help to develop a care plan that works best for you and your family.
We value the feedback and involvement of the SMA community as our understanding of the disease advances. We’ll be updating this site regularly with new insights and content from healthcare professionals, caregivers and people like you — because we are always Together in SMA
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. Available at: https://www.nmd-journal.com/article/S0960-8966(17)31284-1/fulltext
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. Available at: https://www.nmd-journal.com/article/S0960-8966(17)31290-7/fulltext
3. Bharucha-Goebel D, Kaufmann P. Treatment Advances in Spinal Muscular Atrophy. Curr Neurol Neurosci Rep. 2017;17(11):91. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5678931/
4. Juntas Morales R et al. Adult-onset spinal muscular atrophy: An update. Rev Neurol (Paris). 2017;173(5):308-319. Available at: https://www.ncbi.nlm.nih.gov/pubmed/28456383
5. National Center for Biotechnology Information. PubMed website. Accessed 18 November 2019. 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)
6. National Center for Biotechnology Information. PubMed website. Accessed 18 November 2019. 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)
7. ClinicalTrials.gov Search for ‘Recruiting, Active, not recruiting, Enrolling by invitation Studies | Spinal Muscular Atrophy’ Accessed 18 November 2019. Available at: https://clinicaltrials.gov/ct2/results?cond=Spinal+Muscular+Atrophy&Search=Apply&recrs=a&recrs=f&recrs=d&age_v=&gndr=&type=&rslt=
8. Kaufmann P et al. Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology. 2012;79:1889-1897. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3525313/
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. Available at: https://www.nmd-journal.com/article/S0960-8966(16)31129-4/fulltext
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. Available at: https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1052-2
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. Available at: https://www.ncbi.nlm.nih.gov/pubmed/17761659
14. Prior TW, Finanger E, Leach ME. Spinal muscular atrophy. NCBI Bookshelf Website. Accessed November 2019. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1352/
15. Lin CW, Kalb SJ, Yeh WS. Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review. Pediatr Neurol. 2015;53:293-300. Available at: https://www.pedneur.com/article/S0887-8994(15)00275-1/fulltext
16. NICE Technology appraisal guide [TA588]. 2019. Accessed November 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. Available at: https://n.neurology.org/content/58/11/1593