Vanessa Christie Brown is the SMA Care UK Project Manager. Vanessa brings an enormous amount of experience to lead the Standards of Care project through her time at SMA Europe as Research Programme Manager and work with SMA UK as our Research Coordinator. Her skills, experience and knowledge will allow us to drive the project forward and provide the best outcomes for the SMA community.

She will work closely with the Principal Clinical Investigators:

Dr Anne-Marie Childs is a Consultant Paediatric Neurologist and Lead for Neuromuscular Conditions at Leeds General Infirmary

Professor Chiara Marini-Bettolo is a Consultant Neurologist (adult and paediatric) and Muscle Team Lead at Newcastle Hospitals NHS Foundation Trust.

Their work will be overseen by the Project’s Steering Group of clinical and patient representatives who will set priorities.

These are to:

• Review the International SoC (2017) with clinicians and patients to identify key aspects of care that require revision / update in light of the changing SMA landscape.
• Establish a UK SMA SoC consensus for each area of care.
• Implement and disseminate a UK minimum recommendation for each aspect of care.
• Address inequalities in care for families and adults between different sites across the UK by campaigning for this UK standard to be accessible to all people who have SMA, no matter where they live.
• Identify areas of care where further work / evidence / research is needed and work with SMA Europe and other international groups to develop new consensus statements for specific elements of care.
• Link with ongoing international initiatives to update the SoC recommendations based on the evolving therapeutic landscape.

Clinicians and patient groups who worked up the project proposal looked at the topics that had been covered in the 2017 Standards of Care (SoC). They then added to them to reflect the changes in treatment, care and awareness since this time. They came up with these focus areas (in alphabetical order):

• Cognitive and speech development
  • including language and social communication.
• Emergency care
• Medication
  • New and emerging therapies:
  • SMN1 replacement
  • SMN2 upregulation
  • non SMN pathway myostatin inhibitors etc.
  • Evidence reviews of repurposed drugs
    • e.g., salbutamol and pyridostigmine
  • Combination therapies
• Neurorehabilitation
• Nutrition, gastrointestinal and bone health
• Orthopaedic 
  • Spinal management
  • Hip management
• Other organs  – the impact of SMA 
• Palliative care
• Physiotherapy
  • including participation in activities of daily living
• Diagnosis
  • newborn screening
  • neonatal
  • paediatric
  • adults.
• Psychosocial care
  • emotional, psychological & mental health support
• Reproductive health
  • fertility
  • pregnancy
  • woman’s health
  • men’s health (aspects of andrology).
• Respiratory care
  • Acute care
  • Symptom management
• Transition

It would be impossible to work on all of the focus areas at the same time and important that the project produces some meaningful outcomes within 2 years.

In May 2024, leading SMA clinicians across paediatric and adult specialist centres came together to decide which areas of care should be reviewed first. It was agreed that the first working groups selected had to be:

• Areas where there has been a significant amount of recent clinical research published, giving clear evidence.
• Areas that are a priority for both the SMA patient and clinical communities.

Following presentations from clinicians and SMA UK, as well as a poll on SMA UK’s what’s app groups, (see below), it was agreed that the first working groups would be:

The short answer is, ‘Yes’. Clinicians and patients at the different Centres around the country are constantly discussing changing ideas and possible options.

We also know that the SMA Community is better connected than ever before and that many discussions are had and issues raised through social media and our virtual networks. SMA UK has therefore already been tapping into this to gather ‘patient perspectives’ on topics that will be covered by the project. This will save time for when those topics become the next focus:

• Family experiences and perspectives of spinal management for young children >

SMA UK also works with other patient groups and clinicians when we consider an area of care needs urgent attention:

• RSV Vaccinations for children under 2 living with SMA Type 1 >

The Steering Group will identify experts to lead Working Groups (WG) for each area of care. With the support of the Project Manager, each Working Group will:

• include experts in that area of care from paediatric and adult SMA REACH centres (links), patient representatives and other relevant health care professionals
• identify specific concerns and queries being raised by the patient and clinical community
• look at the current recommendations and knowledge and review evidence, research and the results of any patient surveys / consultation
• work to achieve consensus around best care practice
• produce draft guidance that will be reviewed by clinical networks, patients and relevant professional bodies before final agreement
• seek endorsement for the new consensus guidance from relevant national / international professional bodies to optimise adoption of a specific area of guidance across wider networks.

With the support of the Project Manager, each Working Group will:

• seek to publish guidelines in peer reviewed medical journals
• present guidance to relevant conferences and meetings to increase awareness.
• produce community focused information that is accessible to the SMA community, including leaflets and web pages.
• identify training needs and consider how to best deliver relevant teaching / information across all the targeted stakeholders (patients and families, clinicians, and industry), using existing resources when feasible.

If you have particular experience in any of the proposed areas and would like to inform a working group, then our Advocacy Lead would love to hear from you.

Please email: portia.thorman@smauk.org.uk