RESEARCH
GNB1 International Registry
The GNB1 International Patient Registry is a vital resource for the GNB1 patient community. This registry aims to enhance our understanding of the condition, facilitate more research, and improve patient outcomes by gathering comprehensive information from individuals diagnosed with GNB1 and their families. By participating in this registry, patients contribute to a growing body of knowledge that can help inform treatment options and support future studies. Together, we can work towards better management and therapies for those affected by GNB1 disorders.
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The GNB1 Advocacy Group has partnered with Sanford Research, a nonprofit research institute, to create the GNB1 registry within its Coordination of Rare Diseases at Sanford (CoRDS) centralized international patient registry platform. To learn more about the registry, please review the information below. To enroll, click on the "join the registry" button at the bottom of the page.
Why is the Registry Important?
The purpose of the registry is to:
1 / Give an accurate global count of individuals diagnosed with GNB1
Track and monitor every individual with GNB1 in a central location so that we know how many people are affected with GNB1 worldwide. We have a steadily growing number of patients and outdated estimates for our population. Capturing a more accurate number of individuals can help us determine disease prevalence, establish a full list of the different variants carried by GNB1 patients, and build a better case for clinical trials and treatment needs.
2 / Develop diagnostic criteria and understand the natural history of the disease
Because GNB1 is rare and recently discovered, the condition is not well characterized or known. In the absence of genetic testing, patients are sometimes delayed in receiving the GNB1 diagnosis, and the condition is often misdiagnosed with autism or cerebral palsy. The registry aims to uncover common characteristics and symptoms to help establish diagnostic criteria and eventually understand the progression (or natural history) of the disease.
3 / Help scientists easily identify GNB1 patients who may be candidates for future research, including clinical trials
The registry helps to connect patients and researchers, helping researchers further their study of GNB1 by accessing more patient data in one place. With informed consent, patients and their caregivers can share important information to support GNB1 research.
4 / Identify unmet medical needs to guide focus of treatment research
By investigating a wide range of symptoms and potential issues that impact all major areas of the body, the registry can provide valuable information for families and doctors looking to make the best care decisions for individuals with GNB1.
How is this registry different from others?
The GNB1 International Patient Registry has been developed by the GNB1 Advocacy Group board members who are parents of individuals with GNB1 and GNB2, and with the assistance of researchers and clinicians from around the world. The registry features a disease-specific questionnaire that has taken into account the diverse range of symptoms affecting our children. The registry is a dedicated space to collect and store patient data from all GNB1 and GNB2 patients, as opposed to having our data scattered across different registries.​​​
Registry FAQ
Who can participate in the registry?
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Any person diagnosed with the GNB1 or GNB2 mutation, or the parents, caregivers, and/or legal guardians of individuals diagnosed with the GNB1 or GNB2 mutation. Parents, caregivers, and/or legal guardians may also complete the registry for deceased individuals who had GNB1 or GNB2.
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You must be at least 18 years old to participate. A parent, caregiver or guardian may enroll a child who is under the age of 18. A parent, caregiver, or legally authorized representative (LAR) may enroll an adult over the age of 18 who is unable to consent.​
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You must be willing to participate in the Registry & complete the online consent form and registry related tasks
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You must also be willing to share to health information related to your/the diagnosed person's mutation. ​​
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What information will be collected?
If you choose to enroll, you will be asked to complete a brief questionnaire(s). The questionnaire(s) requests your basic contact, demographic, and health information, as well as your communication and research preferences.
You may upload supporting documents that are no more than 20 MB in size. We ask that you upload genetic reports confirming the GNB1/GNB2 variant. You may also upload EEG reports. There is an opportunity to include the contact information for the diagnosed individual's healthcare providers. If you would like to include additional providers, please use the comment space in the last question to add more.
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What happens to the information I share in the registry?
The information that you provide in the registry will be kept in a secure database. The security protections for this database have been carefully reviewed. Researchers may access your de-identified information once they are approved by the CoRDS Scientific Review Committee. The GNB1 Advocacy Group may ask to be involved in the review process. If a researcher wishes to notify you about a research opportunity, CoRDS Personnel will contact you on their behalf. No identifying information will be shared without your approval.
If you chose to have your information shared with the GNB1 Advocacy Group, please note that only your contact information will be shared and confirmation of the patient's variant.
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Who should I contact if I have questions?
​More information can be found in the consent form when you are ready to enroll in the registry. For general questions about CoRDS or enrollment: call (877) 658-9192 or email cords@sanfordhealth.org.
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Forms in Spanish and Italian
Download either set of forms and email once completed to cords@sanfordhealth.org.
Instructions:
1 / Step 1: Activation Form
Enroll by completing the activation form. Select either "GNB1" or "GNB2" as the rare disease diagnosis.
2 / Step 2: Create Account
You will receive an email confirming your enrollment, with a link to create an account. Welcome to the CoRDS partners dashboard. Follow the link in the email to set a password and create an account. If you have questions, or don't receive a confirmation email, please contact CoRDS at 1-877-658-9195 or email cords@sandfordhealth.org
3 / Step 3: Complete Registry Questionnaire
Once you have created an account and logged in, you will have access to complete the GNB questionnaire. After you finish the questionnaire, you may log in and make changes/updates at anytime.
Instructional Videos:
