Global Patient Registry for Refsum Disease
Help us bring patients, families, and researchers together to gain a better understanding of Refsum Disease. If you or a family member has been diagnosed anywhere in the world with Refsum Disease, please enroll in the patient registry to make an important contribution to Refsum Disease research. This registry collects information from people with Refsum Disease will expand our understanding of the condition to improve care, drive patient programs and support, assist research to drive new therapies and identify patients for clinical trial recruitment.
The Global DARE Foundation is partnering with Sanford CoRDS to create the registry. Sanford CoRDS supports and enables rare disease communities to build robust registries, providing researchers with the information they need to drive research forward.
Overview of Sanford CoRDS
Demonstration of the Refsum Registry
Sharing information about symptoms, previous treatments, and your diagnostic journey in the Global DARE Foundation’s Registry at CoRDS (Coordination of Rare Diseases at Sanford) is one of the most effective ways to help effect progress for those with Adult Refsum Disease. Below, you will find answers to frequently asked questions and a step-by-step guide on how to enroll (or update) today.
REGISTRY HIGHLIGHTS
-
Each participant is assigned a Global Unique Identifier that enables de-identification of the data when shared with approved researchers to protect the patient's privacy. This means that your name and other identifying information will not be passed on.
-
The de-identified data will be shared only with researchers approved by the Global DARE Foundation and Sanford's Scientific Advisory Board (SAB).
-
The registry is compliant with the European Union General Data Protection Regulation (GDPR).
-
Importantly, the participant owns his/her personal data and can withdraw the data from the registry at any time.
-
There is no cost to the participants.
-
Providing your consent to Global DARE Foundation to have access to the data you provide will allow us to better understand Refsum disease, help us understand where to drive our research initiatives, and let us know how patients need more support.
ENROLLMENT INSTRUCTIONS
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.
At present the CoRDS registry is not compatible with a screen reader. Therefore, assistance may be necessary if you require the use of a screen reader.
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 or click below.
STEP 1 SET UP A CORDS PROFILE
ACTIVATION FORM
Complete the CoRDS activation form. Please use a desktop/laptop computer. *NOTE-When completing the activation form, it is especially important to enter: "Refsum Disease". After you submit, you will then be directed to the Login Setup screen.
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 QUESTIONNAIRES
The questionnaire 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. It may be necessary to change the Zoom setting on your computer to see this button.
Tips for completing the questionnaires
-
SCREEN READER: The CoRDS registry is currently not compatible with a screen reader. Therefore, assistance may be necessary if you require the use of a screen reader.
-
ZOOM: It may be necessary to modify the Zoom settings on your screen to have the best visual experience when completing the questionnaire.
-
DEVICE: You should use a computer to complete the survey, not a tablet or smartphone.
-
BROWSER: The registry works best with updated versions of Google Chrome, Mozilla Firefox or Microsoft Edge
-
SAVE: You can save the questionnaire at any point, close out and log back into the registry later.
-
FINISH: Even if you have clicked FINISH at the end of the questionnaire, you can go back at any time and update your answers.
-
DIFFICULT QUESTIONS: If you encounter difficult questions, please feel free to move on to other questions and come back to more difficult ones later.
-
ANSWERING QUESTIONS: Some find it easier to go through the entire questionnaire answering “easy” questions first and noting which questions they need more time to answer.
-
LAB TESTS: Some questions may require the participant to consult lab tests (e.g. phytanic acid levels). Having these accessible at the time you complete the questionnaire will be helpful. The participant can also go back and complete those questions later, if consultation with their clinician is necessary.
STEP 3 SUBMIT
Once you have answered all the questions, click FINISH and you have completed the questionnaire!
You will then be directed to a screen to load any relevant document. It is recommended that the participant load their genetic testing if available. The participant can load any other documents that they feel will be helpful. Files sizes are limited at this time to 100kb. After upload the file will not be visible but know that it has been uploaded.
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.
Thank you for taking the time to complete the questionnaire and for making an important contribution to Refsum Disease research!