Dear SMA-UK community,

We are drug safety researchers from the University of Liverpool, and our aim is to understand why some children experience changes in liver enzymes following Zolgensma gene therapy, while others do not.

Over the past year, families across the SMA-UK community have helped us collect cheek swab samples from children who have received Zolgensma. We have now recruited 31 children, representing almost 20% of the UK children who have received treatment. This is an important milestone for the study, and we are grateful to all the families who have taken part. We believe this may now represent the largest collection of genetic data from children with SMA who have received Zolgensma, and it has only been possible because of your support.

We are now hoping to recruit a further 5 to 10 children who experienced a liver-related event following Zolgensma. This includes raised liver enzymes that required an increase in steroid treatment, when your child was infused with gene therapy. These additional cheek swabs will allow us to make more meaningful comparisons between children who experienced liver-related events and those who did not. We will use the genetic information obtained from the cheek swabs to investigate whether inherited factors may contribute to differences in how children respond to treatment.

Families who have already provided a cheek swab cannot participate again. However, families who previously consented but did not return a sample can still take part. Thank you to everyone who has contributed so far. Your participation is helping us investigate an important question about individual responses to gene therapy and may help guide future research.

SMA UK will provide a £30 voucher for your time once the lab has received the swabs.

If you would like to take part please email Portia.thorman@smauk.org.uk