Ciitizen Natural History 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.

Sign up for the informational webinar being held on Friday, April 16 at 9 am PT / 12 pm ET