BHD Syndrome International Registry FAQs

What is the BHD Syndrome International Registry (BIRT)?

The BHD syndrome international registry (BIRT) is a patient-reported database. A patient registry is a centralised database that collects information about people with a specific condition or set of conditions. This includes information on the diagnosis, symptoms and management of BHD syndrome. Find out more about the aims of BIRT.

Why are registries important?

One of the major problems that slows down rare disease research is the lack of consolidated data. A registry can help overcome this and be a source of data to drive forward research. The more information we have about BHD, the easier it is for researchers to answer some of questions about BHD that are currently unknown. It also gives people with BHD the opportunity to get involved with research. The data collected within this registry is high quality and organised to help researchers and healthcare professionals better understand BHD syndrome. This will help the development of new treatments or even a cure in the future.

What information is collected?

BIRT contains 4 surveys:

1. Medical History survey 

This survey asks questions concerning the diagnosis, symptoms, management and treatment of BHD syndrome.

2. Background survey

This survey collects your personal information such as your name and country. No information provided to the registry is viewable by other participants. This information collected through this survey provides important information for linking with health records in the future.

3. Demographics survey

The questions in this survey are optional. This data can help researchers and drug developers improve patient care.

4. Quality of life survey (SF-36 survey)

This survey asks questions to understand how having BHD syndrome impacts your daily life. This survey is also optional.

Why should I get involved?

This is your opportunity to get involved with research and be part of a large community of people with BHD syndrome working together to find new treatments and a cure for BHD. We need as many people to get involved as we really do have strength in numbers.

We would encourage you to tell your family members about the registry. To help, we have written a template letter explaining the BHD registry and inviting them to join. You can download and personalise the letter here.

How do I get involved?

Getting involved is simple.

1. Visit and fill out the registration form.

2. You should then be sent an email to activate your account.

3. Sign the consent form.

4. Complete the surveys.

If you encounter any problems during the registration process, please email us.

You can also download the BIRT user guide as a pdf or word document.

How long does it take to complete the surveys?

We estimate it will take between 30 minutes and 1 hour to complete all the surveys.

Do I have to complete the surveys all in one sitting?

No, the platform automatically saves your progress and you can return at any point.

Will anyone else know I am taking part in the registry?

No one else will know you are taking part in BIRT and your personal identity will never be revealed to researchers accessing the data.

Are researchers able to access the data?

We will be allowing researchers to access the data soon. Any researcher requesting access to the database will have to submit an application to us. This will be reviewed by the BIRT working group. All data will be deidentified. This means removing all data that could be used to identify a specific person such as name or email address.

Who owns my data?

You own your data at all times.  By taking part in BIRT you agree to share your data for the purposes outlined in a consent form that is digitally available and verified by DocuSign. Ultimately you have access to your own data and can consent to share the data with providers and other relevant parties. If you have any questions about the consent process please contact us.

Can I change my mind about participating in the Registry?

Participation in BIRT is completely voluntary. You can leave the registry at any time.

You can withdraw your consent on your profile. Sections 6.5b and 6.5c of the user guide explain this process. Download the user guide as a pdf or word document.  You can also email us with any queries about this process.

Is my data safe?

Privacy and data security is of extreme importance to us and our partners Pulse Infoframe. Security processes and technologies are integrated into all aspects of the BIRT platform.  Find out more about the security of the BIRT platform here:

Is BIRT available in multiple languages?

BIRT is currently available in English. However, the registry will soon be available in French, Spanish and German. We hope to expand into other languages in the future.

Where can I see preliminary results?

We aim to provide regular updates about the data from the registry. Read our most recent update.

Who should I contact with additional questions or concerns?

Please email us with any additional questions or concerns. Please also contact us if you are having trouble registering.

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