GSD1b Data Collection Program is Here
CureGSD1b Research Ready Data Collection Plan
We are excited to have created this GSD1b Patient Advocacy organization to improve care, bring new therapies and treatments to GSD1b patients, and ultimately work towards developing a cure. Over the past 18 months we have worked closely with doctors, researchers, pharma, and other rare disease organizations to get a better understanding of how we move the needle forward for GSD1b care and new treatments. One of the most glaring areas of need, and one that we as an organization can control, is the need to be more organized and have a better understanding of our patient population. We have learned that providing researchers with our data is one of the most effective and efficient ways for us to accelerate our path to new treatments. This data will also enable us to perform a more robust global Natural History Study, which is a critical need for GSD1b. Due to our ultra-rare status, it’s imperative that this be a global effort and we get near 100% participation from the GSD1b community.
Below is a summary of our 3-phase plan to enable a robust and research ready set of data that will lead us down a path of better treatment, new therapies, and ultimately a cure.
Any questions or concerns can be directed to Jamas LaFreniere at email@example.com
Step 1: GSD1b Patient / Caregiver Contact List:
When = Now
We have created a 2-minute questionnaire using Google forms to help us capture some very basic demographics and contact information. This data will not be shared with anyone outside the GSD1b community. This data will help us with the initial rollout of the patient registry, and give us a more effective way to communicate with the GSD1b community about events, research updates, etc. By filling out this form you will be added to the CureGSD1b organization and be assured of receiving important updates. Access the Google forms questionnaire here (you do not need to have a google account):
Please let us know if you need additional languages or help translating the questionnaire by emailing firstname.lastname@example.org
Step 2 – Rare-X Data Collection Program:
When = February of 2022
We have been accepted into the second group of diseases to join the Rare X Data Collection Platform, with an expected “go live” of February 2022. Rare-X is a collaborative platform for global data sharing and analysis to accelerate treatments for rare diseases. This will be patient or caregiver reported data. This will help with things like, disease progression, symptoms, quality of life, etc. and is critical data for therapy development and ensuring that we (patients) help define the desired outcomes. We will have a link on our website to bring you to the registry once it is available. In the coming months we will host a webinar with Rare X to answer any questions. Their website (www.rare-x.org) has videos and great information. This 3-minute video quickly and easily illustrates why a patient or caregiver should participate: CLICK LINK TO LEARN MORE
Step 3 – Adding Clinical Reported Data / Medical Records:
When = TBD
There are a few options that exist for patient groups to also provide a platform to collect medical records. This would give researchers or pharma a very holistic look and a different type of data than what you get from a registry or data collection platform, which is patient reported data. The effort on the patient for this is very light, as you are just giving consent, and then the chosen company does the work to collect medical records on your behalf. As the patient or caregiver, you then get all your medical records in one secure and easy to access portal. This type of data can be very useful and often leveraged for Natural History Studies. We will review the options when the time comes and we are also waiting to see if Rare-X will introduce this feature, which would eliminate the need for two separate platforms. Stay tuned on this, it’s just another way for us to help accelerate research and treatment development.
Welcome to the CureGSD1b Alliance. We are a non-profit organization dedicated to helping find better treatment and ultimately a cure for Glycogen Storage Disease Type 1b. The goal of this organization is to help provide guidance and bring collaboration to all people and organizations working to cure GSD1b. This organization was born from two fathers working together to help cure their children. Although we had two separate foundations, we quickly learned how important it was to work together and how much more effective and efficient we were. We are hoping we can inspire more folks to join this fight to cure our children. Please don’t hesitate to reach out with any questions. All fundraising will be done by individual organizations that are Alliance members and all grant requests will go through them as well. The CureGSD1b website is funded and operated by Sophie’s Hope Foundation, which is a registered 501c3 charity dedicated to improving the lives of patients with GSD1b (Tax ID: 84-5014314).
Watch the highlight video!
Sophie’s Hope Foundation 2021 Golf Tournament raises over $125K for GSD1b research!
All proceeds go towards research to improve care,
new treatment, and eventually a cure