Cannabidiol (brand name Epidyolex) is an important medicine option for people with hard to treat seizures associated with TSC. The journey of this and other treatments is the result of lots of hard work – especially for TSC researchers

Those involved in Epidyolex included the company that made it (GW Pharma Limited, now part of Jazz Pharmaceuticals), the TSA, researchers and the TSC community itself. The first step in Epidyolex was to prove that it can potentially make a positive difference in people’s lives, which was achieved thanks to years of research into the medicine by TSC researchers. The researchers involved in this included Professor Andy Tee and his team at Cardiff University, which is a major centre for TSC research. Andy and others at Cardiff University, alongside support from Wales Gene Park, made significant progress in showing how Epidyolex works in TSC.

Professor Tee’s dedication to TSC research goes back many years. Nearly two decades ago, a type of medicine called an ‘mTOR inhibitor’ was discovered, which has the ability to shrink TSC tumours and improve the lives of people with TSC. This sort of medicine is used in many different ways to treat and manage TSC, including everolimus that is now widely used (brand name Votubia). Andy was involved in this much-needed and successful early work to discover mTOR inhibitors, when he was a scientist at Harvard University.

The addition of Epidyolex to the growing list of medicines for people with TSC is a big step. Commenting on Epidyolex, Andy says: “We examined body cells from people with TSC in the laboratory. We found that cannabidiol acts on the body in a different way to treat TSC compared to other mTOR inhibitors. This meant that it can be potentially used as another treatment option in people with difficult to treat TSC-related seizures.”

The TSA has funded a substantial amount of research at Cardiff University over the course of many years. This has led to a wide range of TSC research projects moving to the institution, which means that many researchers receive training and experience in TSC. One researcher in this position is Dr. Jesse Champion, who was funded by the TSA and has recently successfully completed his PhD.

Jesse said: ‘‘The last four years of study and research to complete my PhD have been both challenging and rewarding in equal measure and wouldn’t have been possible without the funding and support of the TSA, especially during the difficult period of COVID-19 restrictions. I found my time researching TSC to be not only interesting academically, but by contributing to the field of TSC research, also immensely gratifying. Following my PhD, I hope to remain within TSC research and continue work which hopefully will positively impact TSC patients and their families. Additionally, given my incredibly positive experience with the TSA, I would love to work with them in future projects.”

The TSA is proud of our impact in the huge progress we’ve seen in TSC research and treatments, which wouldn’t have been otherwise possible without our support. Andy and Jesse have also recently been awarded several grants, including a grant from Jazz Pharmaceuticals to complete their cannabidiol research on TSC.

Andy and Jesse would like to thank all research funders for their support. Their work, alongside other researchers worldwide, will continue to have a positive impact on the TSC community as our ultimate search for a cure goes on.