This news report was originally written for the University of Liverpool’s Research News page and can be read here read here
Spinal muscular atrophy (SMA) is a rare genetic disorder with limited treatment guidance for choosing between gene therapy (e.g., Zolgensma) and other therapies. The Hypersensitivity (HYST) study, led by Professor Sir Munir Pirmohamed at the University of Liverpool and funded by the EU Innovative Medicines Initiative’s ARDAT ARDAT consortium, seeks to identify biological factors linked to adverse reactions to gene therapy and develop tools to personalise treatment decisions.
Recruitment has been challenging due to the small, dispersed patient population (around 150 eligible patients in England). After 10 patients were enrolled over two years through passive recruitment, the team boosted participation by attending the SMA-UK Big Weekend in September 2025. Using a mobile research unit from Alder Hey Children’s NHS Foundation Trust Alder Hey Children’s NHS Foundation Trust and recruitment supported by clinical staff from Sheffield Children’s NHS Foundation Trust Sheffield Children’s NHS Foundation Trust, they recruited 13 new participants and engaged 20 more interested families. These efforts have tripled enrolment, now covering nearly 30% of the UK’s eligible SMA population.
