TSA research strategy 2019-2023, summary of research priorities

The TSA has developed a new research strategy which is consistent with the charity’s five year strategy to reach more people and drive more research.

Our research priorities are:

Earlier diagnosis, including:
• Improving foetal ultrasound strategies
• Using neonatal EEG in those at risk to spot early signs of epilepsy
• Genetic testing through universal maternal blood tests and/or universal blood drop testing for neonates.

Early risk assessment, including:
• Targeted genetic testing for families with known risks
• Genetic analysis combined with manifestations (genotype: phenotype correlations)
• Using natural history registers and databases to calculate predicted future severity of condition.

Basic science and pre-clinical work, including:
• Lab based research to understand molecular mechanisms
• Lab based research to identify new therapeutic targets and establish effectiveness in a pre-clinical setting
• Stimulating initial stage research of TSC-gene modifying therapy in pre-clinical studies.

Prevention, including:
• Trials of mTOR inhibitors and other therapies for newly diagnosed infants and older people, aimed at preventing kidney damage, preventing lung damage (LAM), and earlier control of infantile spasms and other manifestations of TSC
• Diagnosis and early control of infantile spasms
• Tools to alert parents to infantile spasms and how to report them to TSC clinics
• Approaches to lowering the risk of developing neuropsychiatric disorders.

Research into new and available therapies, including:
• Optimising therapy for kidney disease, skin disease, LAM and epilepsy (better and more tailored treatments)
• Promoting methods for the early identification of TSC-Associated Neuropsychiatric Disorders (TAND), measuring unmet need and improving treatments for each aspect of TAND.

Social and service research, including:
• Looking at what is really affecting people’s lives and how to support them (for example, isolation, inability to work, education).
• Understanding best practice in delivering support and care from the TSA.

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