RARE TSC
Research type
Research Database
IRAS ID
352291
Contact name
Sam Amin
Contact email
Research summary
RARE TSC: The National Registry for Advancing Research and Engagement in Tuberous Sclerosis Complex
REC name
HSC REC B
REC reference
25/NI/0076
Date of REC Opinion
4 Jul 2025
REC opinion
Further Information Favourable Opinion
Data collection arrangements
A national consented registry specific to TSC is not currently in existence in the UK, and the actual number of people with the condition in the UK is still unknown. Therefore, the primary aim of this project is to identify child and adult patients with a confirmed diagnosis of TSC, across all four nations, and to develop a detailed database to include the many different signs and symptoms of the condition. Unlike other databases, participant data will be input into the database by TSC doctors and wider healthcare teams at routine TSC clinic appointments, so that the burden of taking part in this study is minimal for participants, their parents and carers.
Research programme
This project supports individuals with a diagnosis of tuberous sclerosis complex (TSC) and their parents, carers and wider family members. TSC is a rare genetic condition that causes non-cancerous tumours to grow on major organs of the body, including the brain, kidneys, lungs, heart and skin. Other symptoms can include epilepsy; sometimes refractory - which means that seizures cannot be treated using the medicines currently available, a delay in brain development, and TSC-associated neuropsychiatric disorders (TAND) - an umbrella term for various psychiatric conditions and sleep and behaviour conditions. Everyone with TSC is affected differently, some people are mildly affected whilst others are more severely affected.
Research database title
RARE TSC: The National Registry for Advancing Research and Engagement in Tuberous Sclerosis Complex
Establishment organisation
University of Bristol
Establishment organisation address
67 St. Michael's Hill
Bristol
BS2 8DZ