STXBP1 Foundation and Ciitizen Partner on Natural History Study, Study Starts Recruitment April 16
The STXBP1 Foundation is thrilled to announce an exciting partnership with Ciitizen to develop a new Natural History Study for STXBP1. Ciitizen is an innovative Natural History platform, which works with Rare Disease and Cancer communities searching for cures.
Ciitizen enables patients to share their data with researchers through the use of a unique platform that is able to pull meaningful information from medical records related to how a mutation in the STXBP1 gene has affected a person; and will consolidate medical record information from multiple hospitals or medical providers where a patient has been seen. Parents will also have access to their child’s records in a secure patient portal.
Enrollment for the Ciitizen Natural History Study for STXBP1 starts Friday, April 16. Cohorts of 50 participants will be enrolled in several rounds through the fall of 2021, for a total of 150 participants. This will be a global study; however a current limitation is medical records need to be in English as medical record review services in other languages are not yet offered. The first roll out in April will be limited to the USA as Ciitizen is ramping up their ability to accept medical records from additional countries. We expect international families with English medical records will be able to enroll by the second round of enrollment in July, with additional languages supported in the future.
Simons Searchlight has also partnered with Ciitizen and the STXBP1 Foundation, so if an STXBP1 family is already registered with Simons, they will receive an email from Simons to join the Ciitizen Natural History Study. You do not need to be a Simons participant to join the Ciitizen study, though we encourage our families to participate in both studies as it will make information more robust and comprehensive for researchers in studying STXBP1 disorders.
For more information:
Learn more on our study information page.
Read the press release:
Ciitizen Partners with STXBP1 Foundation to Accelerate Patient Outcomes
Ciitizen’s Real World Evidence platform will accelerate the understanding of STXBP1 Disorders to find treatments for this rare, severe condition with a high unmet need
April 15, 2021 10:05 AM Eastern Daylight Time
PALO ALTO, Calif. & PHILADELPHIA--(BUSINESS WIRE)--Ciitizen, a healthcare technology company that helps patients get full control of their medical records to access better treatment options including participation in research and clinical trials, and the STXBP1 Foundation, a patient advocacy group dedicated to finding a cure for STXBP1 Disorders, today announced a partnership to build a digital natural history for STXBP1. This partnership enables the collection of medical records and images for 150 patients, along with the normalization of records around key data elements.
Understanding the natural history of a disease is an essential element to inform drug development. For rare diseases and patient advocacy organizations, it is costly and difficult to acquire, manage and connect the patient data needed for advancing research and treatments. Through Ciitizen’s groundbreaking machine learning platform, the STXBP1 Foundation will be able to provide its research community with computable, regulatory-grade, research-ready data from real-world, largely unstructured, patient health records -- including a collection of medical records and images of the patient population. This data is then made completely accessible to researchers to study the disease and develop treatments. Additionally, Ciitizen provides patients with the rare opportunity to control their own data and who has access to it.
“We are very excited about this collaboration,” said Nasha Fitter, director of rare and neurological diseases at Ciitizen. “The STXBP1 Foundation is forward-thinking and understands the importance of patient data for therapy development. As a rare disease parent myself, I know first-hand the importance of getting deeper, richer, longitudinal data on patients in the hands of researchers, and quickly. We believe this approach can be extended to all other disorders, opening up the possibility to find treatments for over 7,000 rare diseases in a fast and cost-effective way.”
The Ciitizen platform provides consenting patients with the ability to share identifiers from any registry or other platform they are on, enabling multiple sets of data to be connected. This is a critical step towards breaking down the silos of data being stored across various platforms. The STXBP1 community already collects patient-reported outcomes and survey data through an existing registry platform, and this information will be connected to patient’s Ciitizen data to improve the field’s understanding, diagnosis, and treatment of STXBP1 Disorders.
Charlene Son Rigby, president and co-founder of STXBP1 Foundation said, “We are thrilled to partner with Ciitizen on this initiative. We believe in the power of data and how important it is in the journey to finding a cure for STXBP1 Disorders. This collaboration will open up an entirely new approach for our Foundation and patient community. The combination of Ciitizen’s structured medical record data, and our existing registry platform’s deep information from patients and caregivers, will provide doctors and scientists with an innovative way to accelerate understanding of natural history while empowering patients to take control of their data.”
About Ciitizen
Ciitizen is a leading consumer health technology company whose mission is to help patients get full control of their medical records to access and find better treatment options including participation in research and finding clinical trials. As a patient-directed care platform, Ciitizen believes patients should have full control of directing the use of their data, which serves as one of the richest sources of real-world evidence, unlocking new options for patients and the community. For more information, contact research@ciitizen.com and visit http://ciitizen.com/research.
About STXBP1 Foundation
STXBP1 Foundation is dedicated to finding a cure for STXBP1 Disorders while improving the lives of our patients and families. Founded in 2017, STXBP1 Foundation is a parent-led advocacy organization. STXBP1 Disorders are rare epileptic and neurodevelopmental disorders caused by changes in the STXBP1 gene. With an incidence of approximately 1 in 30,000 live births, STXBP1 Disorders are one of the most common genetic causes of epilepsy. For more information, contact info@stxbp1disorders.org and visit https://www.stxbp1disorders.org/.