2017 Standards of Care for Spinal Muscular Atrophy (SMA)

The clinical spectrum of Spinal Muscular Atrophy (SMA) means patients often require comprehensive, multi-disciplinary medical care. In December 2016, the first treatment for SMA, Spinraza ® (Nusinersen), was approved in the USA. Though this is a significant step it is acknowledged such treatments are not a cure. Treatments must be provided alongside the best possible supportive care and management in order to improve life expectancy and quality of life.

The first international guidelines to detail best standard of care (SOC) was published in 2007 entitled ‘Consenus statement for standards of care in spinal muscular atrophy’. You can read more about the development of these guidelines here (link to page ‘Previous care standards for SMA’).

The guidelines from 2007 were widely adopted by clinicians, patient representative and pharmaceutical companies. In 2016 twenty-six experts and patient representatives from nine countries convened in Naarden for a European Neuro Muscular Centre (ENMC) International workshop². Experts agreed that although many aspects of care had dramatically improved ,  there was also new evidence to suggest improved natural history in all types of SMA due to advancements and more proactive approach in medical care. Considering this, and the rise of clinical trials, it was decided an update of the 2007 consensus statement was required.

Following the ENMC workshop the multidisciplinary committee of international experts worked to provide a two part updated Standards of care, the work was led by Professors Richard Finkel (USA) and Eugenio Mercuri (Europe) and published in neuromuscular disorders in 2017. Fifteen core group members worked with over one hundred experts through conference calls, e-mail communications meetings and Delphi survey. The update addresses nine key areas of care, including new topics such as, acute and emergency care, medications and the involvement of other organs.

You can access the updated care recommendations here:

Part 1: Diagnosis and Management of SMA; Recommendations for diagnosis; rehabilitation; orthopaedic and nutritional care.

Part 2: Diagnosis and Management of SMA; Pulmonary and acute care; medication; supplements and immunisations; other organ systems; and ethics.

TREAT-NMD are now working with Cure SMA, UKSMA, MDUK and SMA Europe to produce a guide to the 2017 international standards of care for SMA. The guide is intended to provide people with SMA and their families’ information about what kind of medical treatment they may receive in an accessible format, suitable for people who do not have a medical background. Guides to the standards of care have previously been referred to as ‘family guides’

References

1. Wang CH, Finkel RS, Bertini ES, Schroth M, Simonds A, Wong B, Aloysius A, Morrison L, Main M, Crawford TO, Trela A Participants of the International Conference on SMA Standard of Care (2007) ‘Consensus statement for standard of care in spinal muscular atrophy’. Journal of Child Neurology, 22(8), pp.1027-49 doi.org/10.1177/0883073807305788

2. Finkle RS, Serjesen T, Mercuri E; ENMC SMA Workshop Study Group (2017) ‘218th ENMC International Workshop:Revisiting the consensus on standards of care in SMA Naarden, The Netherlands, 19-21 February 2016’. Neuromuscular Disorders. 27 pp. 596-605. doi.org/10.1016/j.nmd.2017.02.014.