The registration process consists of just a few steps.  Once you have created a username and password for your account, be sure to write it down and keep it in a safe place.  You will use the username and password you create now to log back into the Registry if you decide to complete the survey in steps, to update your profile or contact information, get updates on research studies and clinical trials, review our “Resources” page and more.

If you are the affected individual and age 18 and older please create an account in your own name by following these steps:

  • Review “Understanding Your Participation” below.
  • Click “Next” and thoroughly review and answer the questions in the “Informed Consent”.
  • Enter your name, select ‘self’ to indicate relationship to affected individual, enter your e-mail address, and choose a username and password.
  • Click “I agree to the Terms and Conditions”.
  • Type in the security code provided.
  • Click “Register”.
  • Write down your username and password and keep it in a safe place.

If you are the parent, legal guardian or caregiver of a minor or dependent with the diagnosis, please create an account in your own name first following the same steps above.  Be sure to select the appropriate response when indicating your "Relationship to Affected Individual".  Once you have created an account in your own name follow these steps to create a record for the affected individual(s) under your care: 

  • On the “Account Details” page, provide information about the affected individual.
  • After you have completed this page you will be prompted to take Section 1 of the Registry survey.  Note: You will need to complete the entire survey for the first affected individual before you can add any additional affected individuals to your account. 
  • After you complete all three sections of the survey for the affected individual, you will be taken to your account’s profile page, titled “My Profile”. 
  • To add additional affected individuals to your account (siblings, other dependents, etc.), click on the words “Add a Family Member” under your name.  You will then be able to complete a Registry survey for each additional affected individual.         

If you would like to attach test results or other documentation to your profile after completing the survey, go to the "Attachments" tab under the "My Profile" tab and follow the instructions.   

You can log out of the Registry at any time and your information will be saved. If you have any questions about the registration process, contact the Registry Coordinator by email at This e-mail address is being protected from spambots. You need JavaScript enabled to view it .