TSA Research Strategy

Last Updated Spring 2014

The TSA began funding research into TSC in 1980.Since then we have given financial support to a wide range of projects spanning the research spectrum from the laboratory to the clinic. Funding by the TSA has contributed to the following medical advances:

  • Identification of the TSC genes
  • DNA testing for TSC
  • Discovering the natural history of TSC (What problems occur and when)
  • Understanding what goes wrong in TSC cells
  • Clinical trials of mTOR inhibitors

We have also supported and promoted collaboration in research, hosting international research conferences and meetings.

There is very little government funded TSC research in the UK. For this reason, it is absolutely vital that the TSA targets its research spend effectively. Our strategy focuses on understanding TSC and its impacts and treating and preventing manifestations of TSC.

Our objectives are

  1. To increase our level of investment in TSC research. We will target our investment with a view to encouraging young or new researchers into the field of TSC research and through awarding ‘seed grants’ to innovative projects. We will continue to support successful active research centres. By 2018 we will be investing £300,000 per annum in TSC research.
  2. To raise the profile of TSC research, actively seeking, fostering and promoting collaborations. We will develop and implement proposals for a UK TSC Research Network in order to unite TSC research efforts. Our goal is to establish a UK-based European Centre of Excellence for TSC. We will be open to different models of working, including the possibility of a networked or virtual centre, with an emphasis on inclusivity across the TSC research network in the UK and abroad.
  3. To maximise the involvement of people affected by TSC in research. We will provide support and information that will enable people affected by TSC to understand and participate in TSC research at all levels; helping to set the research agenda, shape and review our investments, raise funding to support research and participate in research projects.

Our strategic themes are:

Theme 1: Understanding TSC and its impacts

  • Natural history of TSC, outcome or prognosis– supporting a UK register / database of natural history
  • Social & Service Research – stimulating social research to reveal the unmet needs of people affected by TSC such that resources can be targeted to relieve them
  • Molecular genetics research 
  • Understanding individual manifestations of TSC, for example is epilepsy alone involved in SUDEP or are there other contributory factors?

Theme 2: Treating & preventing the manifestations of TSC

  • Epilepsy: anticonvulsant drugs trials in epilepsy
  • Neuropsychological/psychiatric problems: including the understanding of and alleviation of autistic behaviours
  • Improving outcomes in Neurocognition
  • Treatment of tumours: including the topical treatment for skin tumours
  • Early intervention studies to ameliorate the long-term effects of TSC.
  • Treatment of kidney and lung problems

Our vision:

To facilitate the development of a major early invention study. This is likely to be based around the use of an mTOR inhibitor to in early childhood and likely to focus outcomes in the following areas:

  • Prevention of  the progression of kidney disease in children with known kidney problems
  • Prevention of the worse aspects of TSC amongst neonates including: Epilepsy, ASD, Intellectual impairment, SUDEP, skin rash, kidney & lung disease etc.

This would be a major driving focus for TSA research. It has become our major research programme known as TSCure. It would require large scale preparation and collaboration. The aim is for at least one study to commence in 2017, the same year as the TSA turns 40.

It is the intention that TSCure will provide the key research vision for the TSA in the coming years driving our funding decisions and seeing a range of collaborative and preparatory activities. This will include:

  • Commissioning of specific reviews and primary research
  • Development of a task force to determine the focus and parameters of early intervention studies
  • Lobbying governmental bodies, funding councils, international TSC organisations and pharmaceutical companies to secure appropriate funding for this major undertaking.
  • The use of the 2015 UK TSA Conference as a platform for finalising methodological aspects of the main study and building collaboration.
  • Promoting or assisting with other studies that help build the body of knowledge important to the development of TSCur

For more information on TSCure, please click here [link to document below]

Animals in medical research.

The TSA is a member of the Association of Medical Research Charities (AMRC). All AMRC members support the AMRC position statement on the use of animals in research. The position statement can be found HERE