About CaTS
DID YOU KNOW?
Genetics cannot entirely explain why some people have more severe TSC than others. Even people from the same family, with the same genetic mutation, may have very different manifestations.
Our primary goal is to learn why some people with TSC will have severe disease, and others will not, to advance personalized care and optimize patient well-being.
We are especially interested in the determinants of severe epilepsy, intellectual disability, and autism spectrum disorder.
Our current focus are specific molecules in the blood that are associated with brain injury, inflammation, and activation of the body’s immune system. We are seeking to better understand how these are associated with TSC severity.
This better understanding would allow doctors to identify brain disorders before they become physically evident. It would also allow for the better prediction of long-term outcomes in people with TSC which would lead to new means of selecting individuals to treat with early vigabatrin or TSC-specific treatments such as mTOR inhibitors. Finally, our research could also lead to new ways to treat people with TSC, using existing medical treatments that specifically target the immune system but have never been used in TSC.
CaTS Study Design
Our goal is to obtain high-quality, multimodal data on at least 200 children and adults with TSC. This includes a complete characterization of each person, including:
Patient-reported, clinician-reported and performance outcome measures
Comprehensive developmental, neuropsychological and psychiatric evaluations (e.g. TSC-associated neuropsychiatric disorders)
High-quality blood samples, for molecular and genetics analyses.
Brain magnetic resonance imaging, analysed using state-of-the-art quantitative methods
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