Myhre Syndrome Patient Registry

Enrolling in the Myhre Syndrome Patient Registry at CoRDS (Coordination of Rare Diseases at Sanford) is one of the most effective ways to help research and clinical treatment for those living with Myhre syndrome.

The Myhre Syndrome Patient Registry is an online, confidential database of standardized information about individuals with Myhre syndrome.

We’re delighted to provide you with a 2024 Myhre Syndrome Foundation Patient Registry update. We’re so grateful to everyone who has joined - an incredible 22 countries are represented!

The data from both the 2022 and 2024 reports include demographic information as well as information on key symptom areas.

By sharing your diagnostic and treatment history, you can help provide researchers with the data necessary to conduct informed research and clinical trials and ultimately identify improved treatment options and patient outcomes.

If you’re already enrolled, don’t forget to log in each year and update us on any new information. When you choose to participate, you can also choose who sees and uses the information you provide. Your privacy is important to the Myhre Syndrome Foundation. As always, please contact us with any questions or concerns about participating at research@myhresyndrome.org, and don’t let language be a barrier. We can help!

Patient Registry FAQ

Why should I join the Myhre syndrome patient registry?

With researchers and affected individuals scattered around the globe, rare disease patient registries are a crucial tool to centralizing clinical information and connecting researchers to patients. No matter where you live in the world, by joining the Myhre Syndrome Patient Registry you will be helping to paint a global portrait of the disease and supporting physicians to better diagnose patients and researchers to develop treatments for Myhre syndrome and associated diseases.

The registry provides opportunities to be informed of research studies or clinical trials for which you may be eligible. When you complete the questionnaires, researchers will be able to compare your answers with those of others to detect trends, identify common symptoms, understand how the disease progressed over time and gain insights into which potential treatments may be beneficial for you/your child and future families diagnosed with Myhre syndrome.

What is CoRDS?

Based at Sanford Research, a non-profit research institution, the Coordination of Rare Diseases at Sanford (CoRDS) is a centralized international patient registry for all rare diseases. To date, over 7500 enrolled participants from over 65 countries, representing over 1100 rare diseases are registered via the CoRDS platform. CoRDS connects patients and researchers to advance treatments and cures for rare diseases.

The registry is free for participants to enroll. During enrollment, participants provide information on their condition for researchers to access. Because patients’ privacy is the first priority, the database is secure and all information is protected, so the information researchers receive does not identify the participant. (For more information on CoRDS click here.)

Who can enroll in the registry?

Any person from any country, diagnosed with Myhre syndrome, can contribute valuable information and should participate. For minors or those needing assistance, parents or legal guardians may submit information on their behalf. This is a world-wide effort. The more data we have, the better for researchers to understand trends needed to further research and treatment options. Having a centralized registry will allow researchers to develop an official worldwide number of documented Myhre Syndrome cases.

Will my personal information be safe?

With the Myhre Syndrome Patient Registry you will always be in control of your information. The information provided is kept strictly confidential. The questionnaires that you complete will never be associated with your name. Instead, an anonymous ID number is assigned to your identifiable information (name, address, etc.) and to the responses you provide in the questionnaires. Your identifiable information is then stored in one database, while your responses, tagged only with an ID number, are kept in a separate database.

Researchers must get approval by the CoRDS Institutional Review Board (IRB)  and their own institution’s IRBs before they can request to look at the registry or questionnaire responses and then they will be given only the anonymous data found in the second database. The IRB reviews the research to ensure that CoRDS participants’ rights are upheld. You can update or remove your information at any time and only you decide how your information is shared.

Does the Myhre Syndrome Foundation have access to my information?

Myhre Syndrome Foundation can only access your anonymous information if you choose to share it with us when you complete your registry questionnaire.

How can I participate in research or clinical trials?

With the Myhre Syndrome Patient Registry you are always in control of your privacy. When you enroll you will be asked if you are willing to be contacted to participate in research or clinical trials. When a researcher informs CoRDS they would like additional information from all participants who have a specific symptom, CoRDs will contact you to provide you with the researchers’ contact information. It will then be up to you whether you contact the researchers to participate in their research.

How do I enroll in the registry?

The CoRDS patient registry platform will take you through a series of questionnaires step-by-step.  It takes approximately 30-45 minutes to complete registration and we suggest you have your/your child’s medical reports on hand to help you as you complete the forms. The patient registry can be completed over multiple sessions and updated at any time

Step 1. ACTIVATION FORM and LOGIN SETUP

This step includes completing an informed consent form which describes how your information is kept and used in order to be considered enrolled in the registry. A username will be generated for you based on your name. You will also be asked to create a password and set up a security question.

Step 2 CoRDS Questionnaire

When you have logged into your CoRDS Patient Registry Profile, you will begin the short CoRDS Patient Registry Questionnaire where you will be asked for contact, basic clinical and demographic information.

Step 3 Myhre Syndrome Questionnaire

Once you have completed the CoRDS questionnaire, you will be ready to move on to questions specific to Myhre syndrome including your diagnostic, symptom and treatment history. You can save and return to the questions at any time. When you have answered every question to the best of your knowledge, click SUBMIT and congratulate yourself for joining the Myhre Syndrome Patient Registry!

You can update your answers at any time by logging in to the CoRDS online portal. We suggest you update your information at least once a year on your/your child’s birthday to improve the understanding of the challenges faced by persons with Myhre Syndrome and how these change over time.

Are the questionnaires available in other languages?

Although the registry is currently available only in English, we are working hard to offer translated versions soon. If you would like help to complete the English questionnaire consider asking your healthcare provider or a trusted family member/friend. If you need additional assistance contact info@myhresyndrome.org.

Who do I contact if I have more questions?

CoRDS personnel can be reached directly by calling (877) 658-9192 or by email at cords@sanfordhealth.org

Ready to get started?