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CoRDS Registry

We’ve heard from medical professionals and researchers and the consensus is that one of the
first and most important steps we can take as a rare disease community is to have a centralized registry in which to gather data about this disorder.

We’ve chosen to create such a registry in partnership with CoRDS in the hopes to gain a better
understanding of the various mechanisms and symptoms of a DLG4-related synaptopathy as
well as its progression with age, its impact on everyday life, and the therapies and treatments
that work best.

The data gathered could:

  • Guide researchers in their understanding of the disorder and help them find treatments or develop new ones;
  • Make it easier to accurately diagnose (and decrease the amount of non-conclusive diagnoses);
  • Provide guidelines for healthcare teams caring for existing and new patients about what symptoms to watch out for, what treatments to favour, what specialists to consult, etc;
  • Provide supporting evidence for families to advocate for access to medical care, tests or services;
  • Provide families of young or new patients with a better picture of the disorder and what the future may hold.

Anyone with an identified genetic DLG4 variant! The more patients there are represented in the registry, the richer and more useful the data will be.

The registry can be accessed from anywhere in the world and international participation is
highly encouraged and crucial in such a small community.

You will fill out two surveys (one general survey and one DLG4 synpaptopathy-SHINE
Syndrome specific survey). You will also be asked to upload the genetic report. This is most helpful as it verifies the genetic mutation and provides critical information about the variant. It can also help connect the right patients to the right research project or trial.

The more complete the data is, the more useful it will be. The system does not require you to
answer every question, but we encourage you to if possible. There are “unsure” and “not
applicable” options to most questions. Please use these rather than skip a question. Also keep
in mind that you can save your progress at any point and do not have to finish in one sitting. If
you get overwhelmed, you can stop and come back at a later time to complete the survey.
You can also modify your answers at any point if a significant change has occurred.
Finally, a reminder will be sent to you once a year to update your answers. This should only
take 15-20 minutes and would be very helpful for the natural history of the disorder.

The data in the registry is protected by HIPAA (Health Insurance Portability and Accountability
Act in the US) and compliant with GDPR (General Data Protection Regulation in the EU).
CoRDS has worked hard to ensure that the data adheres to strict privacy regulations both to
protect your information and because this is required for researchers to be able to use it.
Researchers are only given de-identified anonymous data. They must also first be approved by
Sanford’s Scientific Advisory Board.
You will also be asked to provide informed consent. We encourage you to provide consent for
the SHINE Syndrome Foundation to have access to your data as this will allow us to provide
our community with the best feedback and guide us in where to direct our research initiatives
and how to best support our community.
Most importantly, note that you own your personal data and can withdraw it from the registry at any point.
For any questions, participants can call CoRDS at + 1 877 658 9192 or send an email
cords@sanfordhealth.org.

How Do I Sign Up and Participate?

If you would like to enroll and complete the CoRDS Patient Registry Questionnaire online, you may do so by following the instructions below. The registry works best with updated versions of Google Chrome, Mozilla Firefox or Microsoft Edge and may not work as well with a phone or tablet. You may also complete registration on paper by calling CoRDS at + 1 877 658 9192 or sending an email to cords@sanfordhealth.org and requesting a paper version of the CoRDS Patient Registry Questionnaire.

Step 1

  • Set up a CoRDS profile
  • Activation Form – Complete the CoRDS activation form. Please use a desktop/laptop computer or tablet.
  • Login Setup – The system will generate a username for you based on your name. You will need to create a password and setup a security question. Once completed, click the LOGIN button to login to your CoRDS Patient Registry Profile.

Step 2

  • Complete CoRDS Standard and Disease-specific Questionnaire – The questionnaires will take about 1 hour to complete. In the Patient Registry Profile, click the CONTINUE ENROLLMENT button near the top of the screen. Click on the SAVE & NEXT button in the upper right-hand corner of the screen to proceed to the next set of questions.

Step 3

  • Submit – Once you have answered all the questions, click SUBMIT and you’ve completed the
    questionnaire! Remember, you can always login to update your answers at any time. You should plan to update your questionnaire at least every year and after any significant changes to health.
    Go to https://cordsconnect.sanfordresearch.org/BayaPES/sf/screeningForm?id=SFSFL to get started