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Registration process

Required data
You can view all of the registration questions in advance via the links below:

Creating your profile
The first step of the registration process is to create your user profile by entering some basic information about yourself (name, date of birth, gender, address) and choosing a password. Your username will be your email address. You only need to create your user profile once, then you can log in again at any time to continue or update your registration, or simply view your data.

Informed Consent

When you have activated your profile there is one more important step before we can collect any data from you. We need to make sure that you understand why we are collecting your data, and how we will look after it. Therefore, you will be asked to read some information online and give us your permission (“informed consent”) to accept your data. The informed consent form is automatically created for each patient, and must be completed before registration can continue. This is an online process, but the information is also available as a PDF document, which you can download and print for your own records if you wish. You can also view the patient information sheets and consent forms here:

Consent Information Sheets:

Consent Forms:

Filling in the registry questionnaire
When you have completed the consent, the registry questionnaire will appear for you to complete online. Please answer the questions as fully as you can; every piece of information is important. 

Providing your genetic report
During your registration we will ask you to upload a copy of your entire genetic report (if you have it). Confirmation of the exact genetic mutation that is responsible for your condition is very important for potential treatments, as well as for a better understanding of the disease. We also use the report to verify your registration by checking your diagnosis. We ask you to provide contact details for the hospital or clinic where the genetic test was carried out, so we can ask your doctor to send us a copy of your report, if you don’t have it.

Updating or removing your details
You can log in to your profile at any time to complete, update or simply view your data. Twice a year, you will receive an email asking you to check and update your details; but you are encouraged to update it with any major changes as soon as they occur (including any change in your contact details). It is possible to withdraw your data from the registry at any time – please contact us if you wish this to be done, at