Spinal muscular atrophy (SMA) is a rare and severe genetic disorder. Although there are currently three approved therapeutic options available, there remains no validated clinical tool to guide patients and clinicians in choosing between gene therapy (such as Zolgensma) and alternative treatments.
The Hypersensitivity (HYST) study (led by Professor Sir Munir Pirmohamed at the University of Liverpool), funded by the EU Innovative Medicines Initiative’s “Accelerating Research & Development for Advanced Therapies” (ARDAT) Consortium, aims to fill this gap by identifying biological factors that may make certain patients more susceptible to side-effects that occur after gene therapy treatment, and to provide toolsets for clinicians and parents to truly individualise a benefit-risk assessment associated with gene therapy..
Recruitment remains one of the key challenges for the study due to the small and geographically dispersed patient population. With only around 150 eligible patients across England, each engagement opportunity is of great significance. Over the past two years, passive clinical recruitment has resulted in the enrolment of ten patients. To boost recruitment, the HYST study team attended the SMA-UK Big Weekend on 27–28 September. The event brought together 111 patients and families, clinicians, researchers, and advocacy groups from across the country into the East Midlands Conference Centre in Nottingham.
The team set up a clinical research site at the event through a mobile research unit (MRU) provided by Alder Hey Children’s NHS Foundation Trust and recruitment was supported by clinical staff from Sheffield Children’s NHS Foundation Trust. This provided a vital mechanism to extend the study’s reach and facilitate greater patient participation. In addition to the 13 new participants recruited through the mobile research collaboration, outreach activities throughout the conference generated interest from a further 20 patient families keen to take part. Collectively, these efforts have effectively tripled the number of participants enrolled in the study, now representing nearly 30% of the entire eligible patient population in the UK.
Professor Sir Munir Pirmohamed, Chief Investigator for HYST, said: “The success of this collaborative initiative highlights the importance of partnerships between academic institutions, NHS Trusts, and patient organisations such as SMA-UK. Together, these efforts are driving forward equitable, patient-centred research, ensuring that every individual (regardless of geography) has the opportunity to contribute to advances in rare disease treatment.”
Dr Anita Hanson, a Senior Nursing Research Fellow and NIHR Senior Research Leader from University Hospitals of Liverpool Group said: “This has been an incredible collaborative approach, working alongside those with lived experience to facilitate access to research. The event formed a key part of the study’s wider mission to bring cutting-edge research directly to patients affected by rare diseases. For families managing complex conditions such as SMA, participation in research can often be hindered by travel and accessibility barriers. The mobile research unit provided an innovative solution, allowing patients to take part in the study in a convenient and supportive environment. I am deeply grateful to the teams at LUHFT, Alder Hey, and SMA-UK for their expertise and support in making this possible - a genuine example of teamwork at its best.”
Ms Naomi Rogers, Research Matron at Alder Hey Children’s NHS Foundation Trust commented: “We are delighted that Alder Hey’s mobile research unit played such a key role in supporting this important study. The unit was designed precisely for initiatives like this, to take world-class research directly to patients and families, wherever they are. It is rewarding to see how this collaborative effort has removed barriers to participation and enabled more children living with rare diseases to access pioneering research opportunities.”
Dr Min Ong, a paediatric neurologist consultant at Sheffield Children’s said: “Our research nursing team was proud to work alongside colleagues from Liverpool and Alder Hey to deliver this study on-site at the SMA-UK Big Weekend. It is a privilege to contribute to work that can help personalise treatment recommendation and outcomes for children with SMA.”
And finally, Ms Portia Thorman, Head of Advocacy and Community at SMA-UK added: “The Big Weekend is all about bringing together families, clinicians, and researchers to share experiences and knowledge. Having the HYST study team present this year was incredibly valuable, allowing families to engage with research first-hand. Seeing patients take part in research that could shape the future of SMA care perfectly reflects SMA-UK’s mission to empower our community through collaboration.”