We are excited to announce the launch of RARE TSC (The National Registry for Advancing Research and Engagement in Tuberous Sclerosis Complex).

This project aims to develop the UK’s first national research database specifically for TSC, holding medical and health records for every person with a confirmed diagnosis. Unlike other registries, this project will include participants living in Scotland, Wales and Northern Ireland, as well as England.

What’s the goal of RARE TSC?

Currently, researchers don’t know the exact number of individuals living with TSC in the UK. This registry will give us that important information while also helping doctors and researchers to:

  • Understand the many different signs, symptoms, and complexities associated with TSC
  • Track how the condition progresses over time in different individuals
  • Identify and address any geographical or ethnic inconsistencies in care and access to treatment
  • Promote future research and trial opportunities, including access to new treatments

How does RARE TSC work?

The registry is being developed by a team at the University of Bristol and University Hospitals Bristol and Weston NHS Foundation Trust, led by Chief Investigator and TSC expert, Professor Sam Amin.

The data is stored in a secure, anonymised database called REDCap, which meets strict UK and NHS data protection and security standards. The project has undergone a Data Protection Impact Assessment, receiving excellent feedback for its robust security measures.

Protecting people’s rights and data

RARE TSC has been reviewed and received a favourable ethical opinion from the NHS Research Ethics Committee (REC). This approval serves as a “seal of quality” to ensure participants rights and safety are protected. The project has been vetted to ensure there is very minimal risk to participants. There’s no need to attend extra clinic visits or undergo any medical tests to take part.

Details will be completely anonymised. Direct identifiers like name, address, and NHS number will not be held in the database. There’s no way for participants or their families to be personally identified. Access to the data is also strictly controlled. Any researcher wishing to use the anonymised data must have their application reviewed by a dedicated Review Panel to ensure the research is ethical and truly benefits the TSC community.

Participants remain in control of their information. They can withdraw from the project at any time without giving a reason, and it will not affect their medical care or legal rights.

Who can participate?

The project is open to all children and adults who have a diagnosis of TSC, are registered with a UK NHS TSC Clinic and live in the UK. Participation is entirely voluntary and participants can withdraw at any time without it affecting their medical care.

Rollout first for the Bristol TSC Clinic

The RARE TSC team are now ready to rollout the registry for patients attending the TSC Clinic in Bristol. If you or your child are seen by the Bristol clinic, you’ll soon receive an email directly from the clinic healthcare team. This email will include:

  • The Patient Information Sheets (PIS), which provide full details about the project.
  • The Consent Form for you to complete and sign if you wish (for your child) to take part

When will my clinic take part?

If you aren’t registered with the Bristol clinic but want to be involved, your chance will come! The RARE TSC registry will happen across the UK over the next few years. Each UK NHS TSC Clinic has appointed a local Principal Investigator to work directly with the RARE TSC Team. This phased approach ensures that every clinic has the support it needs to help patients join the database. Keep an eye out for updates, as we’ll announce the next clinic to take part very soon!

For more information, contact the RARE TSC Project Coordinator, Beth Vaughan: bethan.vaughan@bristol.ac.uk.