Without intervention, people living with spinal muscular atrophy (SMA) will continue to experience disease progression.1 The ability to stabilise patients’ disease is considered an important goal as it allows valuable motor functions and quality of life to be preserved.

Explore the sections below to learn more about what matters most to patients, as well as the latest updates to standards of care that make referral to an SMA specialist your crucial next step. 

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DISEASE IMPACT – how are lives being affected?

LIVES ARE COMING TO A STANDSTILL

SMA is a debilitating neuromuscular disease characterised by motor neuron degeneration and loss of muscle strength.2 As the disease progresses, patients face the gradual erosion of pulmonary and motor functions to the point where even simple tasks become impossible.1,3-5 Given that prospect, any treatment that can stabilise disease progression will be welcomed as a therapeutic breakthrough.5

This graph depicts the natural history of SMA disease, 79 patients declined by an average of -1.71 points over 36 months on the HFMSE1

WHY IS DISEASE STABILISATION IMPORTANT?

The results of a European-wide survey* of patients and their caregivers identified the top three functions that patients hoped to preserve in order to maintain their independence:5

*A questionnaire assessing the impact of Type 2 or Type 3 SMA on patients’ quality of life and their expectations relating to new treatments was sent out directly via electronic mailing to the targeted patient population by SMA-Europe member organizations in July 2015. 822 valid replies were collected from 16 countries.5

HFMSE=Hammersmith Functional Motor Scale-Expanded

STANDARDS OF CARE – what has changed?

A LOT HAS CHANGED IN THE QUALITY OF CARE OFFERED TO PEOPLE LIVING WITH SMA7,8

Ongoing research has transformed our understanding of the mechanisms underlying SMA, which has led to updated standards of care in terms of support and care options.6-8

There has been considerable research into SMA in recent years:9-12

Most importantly, specialist neurologists now have access to care options with the potential to stabilise your patient’s disease and help preserve the functions so important to them.7,8,13

If you are interested in learning more about Biogen's offering: 

HAVE YOU SEEN THE UPDATED STANDARDS OF CARE FOR SMA?

In 2007, an International Conference on the Standards of Care for SMA published a consensus statement on SMA standards of care that has been widely used throughout the world.14 In 2018, a two-part update of these earlier recommendations was published, which includes changes to the management and care of patients with SMA, along with information around new care options.7,8

Updates on diagnosis, rehabilitation, orthopaedic and spinal management; and nutritional, swallowing and gastrointestinal management:7

Updates on pulmonary management, acute care, other organ involvement, ethical issues, medications, and the impact of new care options:8

*Accurate as of 18 November 2019

Act now to stabilise SMA

YOU CAN MAKE A DIFFERENCE

It is important that you talk with your patient about the benefits of a specialist neurologist referral.

  • Without intervention, SMA patients will lose motor function continuously1
  • 81% of survey respondents felt that a treatment that could stabilise their disease would represent major therapeutic progress5
  • Many care options are now available with the potential to stabilise disease7,8,13
  • The SMA standards of care have been updated and there are new care options available7,8

IT IS IMPORTANT YOUR PATIENTS GET GENETICALLY TESTED

Once referred, a specialist neurologist will provide your patient with a genetic test (if they haven’t had one already).

Genetic testing will identify whether your patient is eligible for care options that are suitable for those with a specific genetic diagnosis.1

If your patient has a condition that is not SMA, referral will allow other care options to be discussed.15

TOOLS THAT CAN HELP

To help facilitate discussions with your patient, there are patient-support materials you can download:

A patient-friendly explanation of the updated standards of care for SMA patients with the ability to sit, but not walk

A patient-friendly explanation of the updated standards of care for SMA patients with the ability to walk

A patient-friendly explanation of the 2015 European survey results, describing the impact of SMA on quality of life and patient expectations relating to care options

Use our SMA specialist locator to find your nearest specialist neurologist.

Need to find an SMA specialist?

FIND AN SMA SPECIALIST NEUROLOGIST USING THE LOCATOR BELOW

If you want further information on SMA:

*Potential ability to scroll down a website is supported by: Item C: Tracing a Path and Item G: Pushing a Button Light on the Revised upper limb module for spinal muscular atrophy16

References

1. Kaufmann P, McDermott MP, Darras BT, et al. Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology. 2012;79(18):1889-1897. 2. Lunn MR, Wang CH. Spinal muscular atrophy. Lancet 2008;371:2120-2133. 3. Wadman RI, Wijngaarde CA, Stam M, et al. Muscle strength and motor function throughout life in a cross-sectional cohort of 180 patients with SMA types 1c-4. Eur J Neurol. 2018;25(3):512-518. 4. Paradis AD, Wassel CL, Dreyfus J, et al. Symptoms and Complications Among Later Childhood, Adolescent, and Adult Spinal Muscular Atrophy Patients: A Natural History Study Within US Hospitals. Poster P206 presented at MDA 2019; Orlando, Florida, USA. 5. 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. Neuromuscul Disord. 2017;27(5):428-438. 6. Bharucha-Goebel D, Kaufmann P. Treatment Advances in Spinal Muscular Atrophy. Curr Neurol Neurosci Rep. 2017;17(11):91. 7. 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. Neuromuscul Disord. 2018;28(2):103-115. 8. Finkel RS, Mercuri E, Meyer OH, 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. 9. Juntas Morales R, Pageot N, Taieb G et al. Adult-onset spinal muscular atrophy: An update. Rev Neurol (Paris). 2017;173(5):308-319. 10. 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. 11. 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. 12. 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. 13. Darras BT, Chiriboga CA, Iannaccone ST, et al. Nusinersen in later-onset spinal muscular atrophy. Neurology. 2019;92(21):e2492-e2506. 14. Wang CH, Finkel RS, Bertini ES, et al. Consensus Statement for Standard of Care in Spinal Muscular Atrophy. J Child Neurol. 2007;22(8):1027-1049. 15. Visser J, van den Berg-Vos RM, Franssen H, et al. Mimic syndromes in sporadic cases of progressive spinal muscular atrophy. Neurology. 2002;58(11):1593-1596. 16. Mazzone ES, et al. Revised upper limb module for spinal muscular atrophy: Development of a new module. Muscle Nerve. 2017 Jun;55(6):869-874. doi: 10.1002/mus.25430. Epub 2017 Feb 6