Why working with patient groups is critical for providing effective treatments and services

When there are limited options available for treating a rare disease, new therapies can transform care for patients with the condition. For young children with Spinal Muscular Atrophy (SMA), a rare genetic condition that causes progressive muscle weakness and wasting, NHS England has managed to secure three treatments in less than three years, where previously none were available. Here, we are keen to share some of the lessons learned along the way, working together with patient groups to maximise the impact for those affected.

In 2019, there were no NHS-approved treatments for children with SMA. However, later that year, after working with NICE and patient groups, such as SMA UK, NHS England was able to successfully negotiate a deal to make a new treatment, nusinersen (also known as Spinraza®) available for patients.

The deal, a Managed Access Agreement (MAA), stipulated a time-limited period of funding, while collecting further evidence on effectiveness of the treatment. A model that would bring the treatment to patients faster and without delay, with approval from patient groups as signatories on the agreement.

This agreement helped to pave the way for two more innovative treatments, onasemnogene abeparvovec (Zolgensma®) and risdiplam (Evrysdi®), to be secured for NHS patients in March and then November 2021. At the time of approval, Zolgensma®, a cutting-edge gene therapy, was internationally reported to be ‘the most expensive drug in the world’.

Thanks to the close working of commissioning experts with those impacted by the condition, a functioning specialised service was rapidly put into place for patients across England. Zolgensma® has now been given to nearly 70 children with dozens more children with SMA expected to benefit from the gene therapy every year.

Working effectively with patient groups, it was possible to develop a line of communication between NHS England and those affected by SMA, to ensure services would meet the demands of the SMA community while also supporting effective utilisation of NHS resources and clinical expertise.

Regular meetings with patient representatives gave the opportunity to pass on frank advice on the commissioned services from families of children who have SMA and adults who have SMA. These open and candid discussions also enabled questions from the community about the treatments and how the MAA would work to be answered – or explored further when and where necessary

One member of the SMA UK patient group, David from Northamptonshire, said his family felt “reassured that our concerns about our adult son’s difficulties gaining access to treatment were clearly articulated to the commissioners, which in turn enabled all parties to work together to try to address the block we were experiencing”. David added, “having the opportunity to input via the patient group gave those working to set up the service a clearer understanding of the issues families and adults faced. It also highlighted what needed to be done to make sure the arrangements would work so treatments would reach whoever was eligible in the SMA community.”

The results of these conversations – about all three treatments and commercial agreements – gave patient groups the information needed to produce valuable materials for the patient community on the new drugs, posting the details on their websites and receiving thousands of views.

Working together, the information was shared far more widely than it would have if left to one organisation alone. For example, an SMA UK webinar on Zolgensma® in 2021, inviting NHS experts to discuss the new treatment, likely reached all eligible families in the country at the time.

With continued interest in innovative and high-cost treatments, it is essential that service delivery, communications and eligibility assessments meet the needs of providers and patients. This collaborative model, engaging the patient community from the start, supported delivery of equitable treatment provision and well-timed, appropriate information via community channels that was better able to reach those that needed it.

Involving patient groups is essential to developing effective NHS services. The lessons learned working with the SMA community reinforce the value of working relationships and have contributed to improving patient outcomes for hundreds of children with SMA in England.

NHS England works with a range of Patient and Public Voice (PPV) partners at all levels on top of collaborations with organisations like SMA UK. The latest list of opportunities to get involved can be found on the NHS England website.

Fiona Marley

Fiona Marley heads up the Highly Specialised Commissioning Team in NHS England and has worked for the NHS since 1991 in a number of roles, including in primary care and health improvement.

Fiona’s team commissions over 80 highly specialised services, which are typically delivered in small numbers of expert centres. The portfolio includes a number of transplant services, services for patients with rare cancers and services for patients who have rare diseases. Commissioning services in this way ensures that patients have: excellent clinical outcomes; equitable access to services regardless of where they live; and access to clinical trials. In 2021, Fiona commissioned the service to deliver onasemnogene abeparvovec for Spinal Muscular Atrophy.

Liz Ryburn

Liz has been Support Team Manager at Spinal Muscular Atrophy UK (SMA UK) since May 2011. She has a long professional background in social work and disability rights/services in both the voluntary and statutory sector in the UK and New Zealand. She now works on Information Coordination at SMA UK – a patient group/charity that has been providing information and support and funding and supporting research-related initiatives since 1985. The charity actively advocates tor access to treatments and better health and social care with and for the SMA community.