TASMIN; version 1.0
Research type
Research Study
Full title
TSC Antiseizure Medication Screening in Neuro-organoids: A pilot study
IRAS ID
332458
Contact name
Laura Mantoan-Ritter
Contact email
Sponsor organisation
King's College London
Duration of Study in the UK
3 years, 6 months, 1 days
Research summary
The purpose of this study is to demonstrate the potential of using tiny brain-like structures grown from TSC (Tuberous Sclerosis Complex) patients’ cells to study response to antiseizure medications (ASMs) in TSC and to identify new ways of correcting any abnormality, so that potentially new, individual medicines may be developed.
TSC is one of a group of rare diseases that are related to the ‘mTOR pathway’. The mTOR pathway is an important control centre in our cells. Cells are the building blocks of our body, forming things like our heart, lungs and other organs. The ‘mTOR pathway’ control centre is a set of molecules responsible for sensing energy levels and internal signals from the cell and guiding how quickly cells grow. TSC is a result of changes in TSC1 or TSC2 genes which causes too much activity in the mTOR pathway, thereby resulting in an uncontrolled cell growth affecting multiple organ systems. ASM has been used to manage and control TSC-related epilepsy; however, the response to ASM varies among individuals, with more than 50% of TSC patients not responding. This research aims to understand epilepsy in TSC and find new ways to help TSC patients. This research will enable us to better understand why many TSC patients don’t respond to ASMs and in future to identify new treatment to help these patients.
Our research is embedded in our recently founded National “mTOR Pathways Diseases node”, a network of specialists including both scientists and doctors with expertise in diagnosing, treating and investigating the 14 rare diseases. Our mTOR Pathways Diseases node is part of a series of specialist nodes aiming to address challenges in rare disease funded by the National Institute of Health and Care Research (NIHR) and the Medical Research Council (MRC). You can find out more via this link https://rd-research.org.uk/node/mtor-pathway-diseases/.
REC name
Wales REC 5
REC reference
24/WA/0318
Date of REC Opinion
21 Nov 2024
REC opinion
Further Information Favourable Opinion