BHD Syndrome International Registry

In partnership with Pulse Infoframe, the Myrovlytis Trust and BHD Foundation are delighted to announce the BHD Syndrome International Registry (BIRT) is now live!

We want to reach a stage where there are treatments and eventually a cure for BHD. We believe that the BIRT registry is the first step to reaching that goal.

With information from the BHD community, we aim to speed up research and gain new insights into BHD. Importantly, this is a chance for patients to drive forward research in the field.

What is a registry?

A patient registry is a centralised database that collects information about people with a specific condition or set of conditions. They are particularly useful for studying rare diseases as researchers have access to much more data than they would see in their own institution.

Aims of the BHD Syndrome International Registry (BIRT)

  • Develop clear guidelines for diagnosis and management.
  • Determine the prevalence of BHD.
  • To see if patients with BHD experience other symptoms (other than those known in the skin, lung and kidney).
  • Collect information on the type of kidney cancer most likely to develop in BHD.
  • Collect information on the management of symptoms (e.g. kidney scan type and frequency).
  • Include information on genetic sequencing to see if any variants are associated with particular symptoms of BHD.
  • Collect lifestyle information to understand if other factors influence the treatment or management of BHD.
  • Assess the quality of life of those living with BHD
  • Use the registry as a database for potential future clinical trial recruitment.

We want to collect as much information as possible about BHD so it is really important than as many people join the study as possible. To inform your family members about the registry we have written a template letter explaining the BHD registry and inviting them to join. You can download and personalise the letter here.

Sign up to the BHD Syndrome International Registry (BIRT)

Sign up to the registry by clicking the button below. This will take you to the registry website where you can fill out the registration details. You can also watch the video below for a brief explainer of the registry.

A step-by-step guide on registering and completing the surveys is available now. View it here.