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TSC research community sets sights on prevention

A report from the 2015 International TSC Research Conference in Windsor, United Kingdom September 10-12th. From Treatment to Prevention, the global TSC research community asks if postponing the complications of TSC indefinitely is the path to a cure for TSC.

Murray Leikis (Tuberous Sclerosis Complex New Zealand) and Clare Stuart (Tuberous Sclerosis Australia)

The incredible progress of TSC research continues, enabled by a passionate and dedicated global community of patients, families, TSC organisations, scientists and clinicians. The research presented at the meeting was diverse ranging from genetics, molecular signalling, clinical trials, and patient and family experiences, reflecting the strength of the research in TSC. This makes it very challenging to write a short summary of a three day conference with 33 talks, 58 research posters and over 200 delegates from 31 countries.

A major theme of the conference was prevention. A working group called TSCure has been assembled to design a series of collaborative clinical trials examining whether existing TSC treatments (including vigabatrin and mTOR inhibitor medicines) could be used before clinical signs of TSC develop. An example of this is use of the recommended medicine (vigabatrin) for infantile spasms in TSC, before infantile spasms even start. This strategy is currently being researched in a trial called EPISTOP which is examining whether this is effective at reducing the risk of intellectual disability and autism in children. Another example is whether early use of mTOR inhibitor medicines could slow or prevent the growth of angiomyolipomas (AMLs) in the kidneys or the development of lymphangiolyomyomatosis (LAM).

This approach will be enabled by both early diagnosis of children born with TSC and improved ability to predict the risk of an individual child developing particular symptoms of TSC. These ‘risk predictors’ are called biomarkers and can include results of blood tests, developmental assessments, EEGs and radiological imaging.

Australia is pleased to be already involved in these studies. David Mowat from Sydney Children’s Hospital is a member of the TSCure working group and Kate Riney from Lady Cilento Children’s Hospital in Brisbane is one of the investigators in the EPISTOP trial. You can find out more about prevention for TSC at the TSC conference in Sydney in November.

Basic science research is the starting place for all research developments and there were many talks and posters presenting new findings about how TSC cells grow, how they use energy and which chemicals can change these processes. There have also been further gains in our understanding of the mTOR pathway and the signals up and downstream of it. One project has made the links between these and the pathway that determines skin pigmentation, explaining the mechanism behind hypomelatonic macules (white spots) in the skin of people with TSC. These basic science discoveries are the foundation of the next breakthrough in TSC and many potential targets for new therapies were presented.

Other research presented has improved our understanding of the social, financial and psychological impact of TSC on the people affected and also the significant gaps in our knowledge of this area. There was interest in the project being funded by Tuberous Sclerosis Australia into the out of pocket costs experienced by families with a child with TSC. The TS2000 project is improving our

understanding of how infants and young children with TSC develop and understanding more about the factors that can predict autism, ADHD and cognitive impairment. Ensuring that the purpose of the research isn’t forgotten were four wonderful talks from patients and families about their journeys with TSC.

The original gene discoveries that unlocked the secrets of TSC and started this era of significant progress were made in the United Kingdom. It was fitting that this next wave of research was initiated at a meeting in the same place. The hard work of the staff and volunteers at the Tuberous Sclerosis Association (UK) and the Tuberous Sclerosis Alliance (USA) made this conference possible.

You can read more about this research conference at tsa.org.au/category/research.

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