The Bow Foundation has launched the GNAO1 International Registry to accelerate medical research and promote meaningful health outcomes for patients with GNAO1-related neurodevelopmental disorders. The registry is a key step towards establishing a better understanding of GNAO1 disorders.
The registry will:
– Allow researchers to focus on new studies that address the most important GNAO1 challenges.
– Provide valuable information for families and doctors looking to make the best care decisions for loved ones.
-Help scientists identify GNAO1 patients who might be candidates for future research studies.
The Bow Foundation is partnering with Invitae and utilizing their Patient Insight Network (PIN) platform to host the patient registry.
Thank you for your interest in joining the GNAO1 International Patient Registry. We hope you’ll join us as we work to enhance the understanding of GNAO1 and its diverse impacts on patients.
To participate please go to https://connect.invitae.com/org/gnao1
What is the GNAO1 patient study?
The GNAO1 patient study will collect and analyze GNAO1 patient health data. It is designed to help increase understanding and known treatment options for GNAO1-related neurodevelopmental disorders. The survey is sponsored by the Bow Foundation and is designed to be taken by individuals who have a loved one impacted by a GNAO1 gene mutation.
What happens to the information that I put in my account for this study?
The information that you provide in the GNAO1 International Patient Survey will be kept in a secure database. The security protections for this database have been carefully reviewed. No identifying information will be shared without your approval.
What do I need to prepare to take the survey?
Before beginning the survey, it may be helpful to collect the following items, based on the patient’s medical record:
*gestational age at birth
*findings of MRI (if applicable)
*age at which various gross and fine motor skills were acquired
*age at which various communication skills were acquired
*diagnoses related to the following:
-types of movements (if patient has movement disorder) and age of onset
-types of seizures (if patient has seizure disorder) and age of onset
-any other conditions (i.e. ADHD, Autism, etc.)
*genetic test results and specific variant information
*medications used to treat movement disorders (if applicable) or seizure disorders (if applicable) length of time used, age started, and efficacy
*location of DBS (if applicable) and age at implantation
Will I be asked to provide the GNAO1 patients genetic test results and specific variant information?
Yes, the survey includes a question with a dropdown menu to select the patient’s exact variant. If you do not see their exact variant listed please reference this table to see if the abbreviation is in another format. If you still do not see the patient’s exact variant please select option other. If you would like to request to have their exact variant added to the list you can email Emily@bowfoundation.org
How many surveys will I be asked to complete?
The GNAO1 research survey will be administered to all participants who choose to participate. Please be aware that if you indicated the patient has experienced a seizure, a separate survey will populate on your profile page. The link will be accessible in the same area where you will find the other general health surveys.
There are also four additional surveys on the patient’s profile you can choose to complete at any time. Those are administered by Invitae to all PIN participants to assist researchers who study across diseases. These surveys are regarding the patient’s diagnosis, general health, family history and medical care.
Can I enter specific information about my child?
Some family members have requested an option to add additional details about their answers. Due to the open data platform that immediately de-identifies all information there is not an option to add specific details at this time. Protecting our patient’s privacy is of the utmost importance to us. We hope to support a natural history study, clinic, or additional research opportunity in the future that would allow patients the opportunity to provide more specific details to their survey responses.
Can I see the results of my answers and others?
Yes, Invitae de-identifies all of the responses entered and patients will be able to access summarized responses on their profile page.
Who do I contact with questions?
If you have any questions please contact the Invitae PIN Coordinator by e-mail at firstname.lastname@example.org
If you have any questions about the GNAO1 survey please contact Emily at Emily@bowfoundation.org