The first Standards of Care (SoC) for spinal muscular atrophy (SMA) were written in 2007. In 2017 the standards were updated and revised. However, the authors (Mercuri E et al. 1 and Finkel R.S. et al2.) were aware that countries have different levels of resources, so made recommendations based on the minimal care and support that anyone with SMA should receive irrespective of country of residence. They also acknowledged that more specific work needed to be done to address the SoC for adults.

The publication of these guidelines was welcomed globally by the SMA community and a corresponding guide3 for people with SMA and their families was produced by clinicians, academics, health care professionals and patient representatives (Spinal Muscular Atrophy UK, Cure SMA, SMA Europe, Muscular Dystrophy UK and TREAT-NMD) and published in 2017.

However, these revised Standards of Care for SMA were written before disease-modifying treatments were beginning to emerge and were published in two articles in November 2017. A Family Friendly Guide was published in the following year. They covered a wide range of topics such as nutrition and bone health through to respiratory care.

SMA Care UK was born out of a need to update these 2017 SoC to reflect how developments around treatments have changed the care and management needs of people of all ages living with SMA. Its goal is for this care to be accessible to all who have SMA, wherever they live and whichever hospital they attend. People living with SMA will be central to this work. Given the wide-ranging impact of SMA, there are many areas of care to consider. Respiratory, hip, spine and transition to adult services will be the first topics to be reviewed.

The methodology for SMA Care UK is based on the successful model established by DMD Care UK, which was launched in 2020 to improve care for all people living with Duchenne muscular dystrophy in the UK. Their project team has offered significant support and advice to SMA Care UK during our planning and set up, allowing us to benefit from the experience and learnings of DMD Care UK. Collaboration between the two projects will continue, in order to maximise benefits for the patient communities we serve.

Funders

We are extremely grateful to our funders who are supporting this project. Biogen, Roche and SMA UK have all committed funding towards SMA Care UK.

Partners

We are working with the following partners to bring this project to fruition:

The team behind SMA Care UK

Vanessa Christie Brown is the SMA Care UK Project Manager.
Vanessa was a research scientist, working in the field of immunology, initially at The Royal Postgraduate Medical School (Hammersmith Hospital) and later at Imperial College London. In 2011, she joined The SMA Trust as Research Coordinator and SMA Europe until 2024 as Research Programme Manager.

In July 2024, Vanessa took up the post of SMA Care UK Project Manager, to drive forward the update and implementation of the Standards of Care for people of all ages who live with SMA in the UK. The initiative will address people’s evolving care and management needs, reflecting developments around treatments, ensuring that those living with SMA are central to this process.

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
Chief Investigator and Principal Investigator
Chiara is a Consultant in Neuromuscular disorders and the clinical lead for the Highly Specialised Service for Limb-girdle Muscular Dystrophies (LGMDs) at the John Walton Muscular Dystrophy Research Centre (JWMDRC), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. As part of her clinical role, is committed to bring innovation and treatments to the diagnostic and clinical care service.

Chiara is also Honorary Professor in Neuromuscular disorders. She is Principal Investigator for Adult SMA REACH and the following patient registries: The UK SMA, UK FSHD, UK DM and MTM and CNM Patient registries which are all curated at The JWMDRC. Chiara’s research focuses on Real-world data and Patient reported outcome measures.

Grecia Alvarez
SMA Care UK coordinator
Grecia joined the John Walton Muscular Dystrophy Research Centre (JWMDRC) in July 2023, contributing to engagement events and administrative tasks. She assists with creation and maintenance of study documentation. She is responsible for organising Adult SMA REACH network activities and is main point of contact for stakeholders.

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

Claire Fitzpatrick
Senior Research Coordinator
Great Ormond Street Hospital, London (GOSH)

Since university, I have always had a keen research interest in the underrepresentation of vulnerable populations within clinical research for example, children, the elderly, and most recently the inclusion (and mainly exclusion) of pregnant women.  My personal interest in paediatric medicine is how I ended up working at GOSH in the SMA REACH UK Team.

Since starting within the SMA REACH UK team, I have developed a real understanding of the SMA patient population, the evolving SMA phenotypes and the improvements that the available treatments have made in recent years. I am excited to be part of the SMA Care project to continue to ensure that the care of these patients evolves alongside this to improve quality of life for both families and patients with this rare condition.

Giles Lomax – SMA UK CEO
Giles joined SMA UK in May 2023 to lead the charity into its next phase.

Over the last 12 years Giles has worked within several National Governing Bodies for Sport and a not-for-profit local authority, whilst also holding a number of board positions across several organisations. He was appointed as an independent director with Scottish Fencing in 2021, was member of the Scottish Professional Development board for CIMSPA, (The Chartered Institute for the Management of Sport and Physical Activity), was a member of the UK Coaching advisory panel, and also chairs the Judo Scotland Disciplinary panel.  

Portia Thorman – Head of Advocacy and Community
Through her close links to the SMA community, Portia works to advocate for improved access to treatments, therapies and services for all those living with SMA.

Portia is the mother of four children, her youngest son, now six, lives with SMA Type 1 and was one of the first children to be treated for the condition in the UK in 2017. Due to late diagnosis, he lives with complex needs, giving Portia strong motivation in her work as a member of the UK SMA Newborn Screening Alliance.

Portia has a degree in Psychology and 11 years’ experience as a Primary School teacher.

Dr Robert Muni Lofra
Consultant physiotherapist
Robert is a Consultant Physiotherapist and lead physiotherapist at the John Walton Muscular Dystrophy Research Centre (JWMDRC), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

Robert co-leads the Allied Health Care Professional national network jointly with paediatric colleagues at GOSH, supporting the delivering of the functional assessment across the network by identifying training needs and providing training and support to sites.  Robert provides clinical management  advise alongside the development  and implementation of functional outcome measures. Robert’s research focuses on assessment of disease progression and identifying care needs of neuromuscular patients. Robert also has a particular interest in the development of new outcome measures and wearable devices.

James Lilleker
Consultant Neurologist
James is a Neurology Consultant and Honorary Senior Lecturer at the Manchester Centre for Clinical Neuroscience. He is principally interested in the evaluation of patients with complex neuromuscular syndromes, working as co-chair of the Muscle Disease Unit, working in a joint neurology-rheumatology myositis clinic, and running the SMA assessment and treatment service for Greater Manchester.

Dr Mariacristina Scoto
Consultant Pediatric Neurologist
Dr Mariacristina Scoto is a Consultant in Neuromuscular Translational Research at Great Ormond Street Hospital in London. She is principal investigator (PI) and co-PI of a number of clinical trials, in SMA and other neuromuscular conditions.  She is Co-PI of the SMA REACH (SMA REsearch and Clinical Hub) UK Network which collect comprehensive clinical data on patients treated with the diseases modifying treatments (DMTs) available for SMA as well as providing unique natural history data.

Mariacristina’s main interests include the evolving natural history and improving the standard of care of SMA with the advent of innovative treatments.

She sees the SMA Care UK project as an unique opportunity to bring clinical and patient experts together to develop targeted recommendations of care for the UK patients. This is timely relevant as, with the evolving treatment’ landscape, there are several areas needing improvement as well as new emerging uncertainties.

Working groups (WGs) have been formed to address each area of care. Four have been formed in the first instance: respiratory, hips, spine and transition.

Respiratory WG:

• Dr Anne-Marie Childs, Lead, Consultant Paediatric Neurologist, Leeds General Infirmary
• Dr Christopher Edwards, Consultant in Paediatric Respiratory Medicine, Leeds General Infirmary
• Jennifer Carter, Specialist Respiratory Physiotherapist, Leeds University Hospitals NHS Trust
• Lisa Edel, Senior Specialist Paediatric Respiratory Neuromuscular Physiotherapist, Great Ormond Street Hospital NHS Foundation Trust
• Dr Elaine Chan, Consultant Respiratory Paediatrician, Consultant Respiratory Physician, Great Ormond Street Hospital NHS Foundation Trust
• Dr Ben Messer, Consultant in long-term ventilation and Intensive care Medicine, Royal Victoria Infirmary, Newcastle upon Tyne
• Dr Martin Samuels, Consultant Respiratory Paediatrician, Staffordshire Children’s Hospital
• Tracy Proctor, Neuromuscular Nurse, Staffordshire Children’s Hospital
• Dr Marjorie Illingworth, Consultant Paediatric Neurologist, University Hospital Southampton
• Dr Patrick Murphy, Consultant Respiratory Physician, Guy’s & St Thomas’ NHS Foundation Trust
• Portia Thorman, Head of Advocacy & Community, SMA UK and parent to a little boy with Type 1 SMA
• Michaela Hollywood, Pathfinders, adult who lives with SMA

Spine WG:

• Dr Robert Muni-Lofra, Lead, Consultant Physiotherapist, The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust
• Mr Andrew Bowey, Consultant Orthopaedic Surgeon, Royal Victoria Infirmary, Newcastle upon Tyne
• Mr Andrew Rushton, Consultant Orthopaedic Spinal Surgeon, The Newcastle upon Tyne Hospitals NHS Foundation Trust
• Mr Simon Roberts, Consultant Spinal Surgeon, Royal Hospital for Children and Young People, Edinburgh
• Mr Thanos Tsirikos, Consultant Spinal Surgeon, Edinburgh’s Royal Hospital for Sick Children, Edinburgh
• Lianne Abbot, Neuromuscular Physiotherapist, Great Ormond Street Hospital NHS Foundation Trust
• Charlie & George Mosley, parents of a little boy with Type 1 SMA

Hips WG: coming soon

Transition WG: coming soon

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.

Join our Facebook Group to share your experiences for various working groups.

Facebook Group

SMA Care UK, Adult perspectives workshop

Are you an adult living with SMA in the UK passionate about advocating for improved clinical services for the adult SMA community across the UK? Join us at one of our workshops held in Manchester (17th january 2025) and London (28th February 2025).

Find out more here

Alternatively, if you have particular experience in any of the proposed areas and would like to inform a working group, then please contact vanessa.christie-brown@smauk.org.uk