Professor Tim Cox and his team based at the University of Cambridge received a research grant from Sparks to carry out research that would provide crucial information for the design of future clinical trials into gene therapy for Tay-Sachs and the related Sandhoff disease. These are rare and life-limiting conditions affecting less than 100 children in the UK. Babies and children with Tay-Sachs disease experience progressive brain damage, caused by a missing enzyme.
The aim of the Sparks-funded research was to understand at what point gene therapy is useful in treating Tay-Sachs disease and which elements of the condition are irreversible – information that was crucial if a clinical trial of the therapy were to go ahead.
With the help of the results from this Sparks-funded project, Professor Cox and Dr Begoña Cachón secured a major grant of £2.6 million from the Medical Research Council to support a clinical trial testing this new therapy for the first time in European patients.
In the new trial, the team will recruit up to 12 individuals to the study. They will begin by investigating the safety of the therapy. Later, they hope to explore the therapeutic potential of gene therapy in such a devastating disorder.
Professor Tim Cox said: “I can tell you now, that the support given to us by Sparks came at a critical time. It enabled the team to reach a turning-point in the development of our long-standing scientific programme to tackle this cruel and relentless disease. We remain forever grateful for the support from charities over many years: the grant from Sparks inspired our final drive to put clinical gene therapy for these diseases seriously on the map.”
Sparks continues to fund vital research into children’s medical conditions. Find out more about our current projects or get involved in our fundraising events today.
- University of Cambridge
- Tay-Sachs disease, Sandhoff disease