Ciitizen Natural History Study FAQ
What is the Ciitizen Natural History Study?
In general a Natural History Study tracks the course of a disease over time. It provides data from actual patients to help researchers better understand the disease.
Ciitizen is unique from other natural history studies in that it pulls meaningful information out of medical records on how a mutation in the STXBP1 gene has affected a person’s life. It includes medical record information across multiple hospitals and providers where a participant has been seen.
What is required to participate?
Parents will need to provide:
A copy of their driver’s license or ID
Their child’s birth certificate
A copy of the child’s genetic report (see last question on this page if you do not have your child’s genetic report)
Participants will also need to list the providers, clinics, and hospitals where the STXBP1 patient has received care. Lastly, parents will be asked to complete and sign a consent form.
Note that families who have already submitted their genetic report to Simons Searchlight do not need to provide their genetic report again.
Will I have to travel to participate in the study?
It doesn’t require traveling to a specialist or additional forms to fill out, and takes a short amount of time (10-15 minutes) to sign up on Ciitizen’s secure web site.
Is there a cost to participate?
There is no cost to families to participate.
How will my child’s name & other identifiable information be kept confidential?
Yes, for researchers all identifiable information is removed from the patient’s records, and all data is anonymous. Additionally, data is stored securely and cannot be accessed without required approvals.
What does Ciitizen do with the data?
Ciitizen will extract and structure the medical record data in a consistent way so the detailed information can be easily utilized in STXBP1 research.
Who can access the data?
Academic researchers will have access to anonymised data (with IRB approval) at no cost, while industry and pharmaceutical partners will pay a fee for access. A portion of this fee will be given to the STXBP1 Foundation which will be dedicated towards further research into the disorder. All data for research access will be anonymised. Additionally, parents will have the ability to access and share their child’s medical records from multiple institutions via the parent portal.
How does this benefit the STXBP1 community and my family?
In addition to giving researchers access to cumulative data on medications, tests, labs, and medical notations, all participants will have access to their own information and can even download it to keep for their own records or to share with any new providers they may see in the future.
Can we participate if we live outside of the USA?
Starting on July 1, 2021, the Ciitizen study for STXBP1 will be open to participants outside of the US, whose medical records are in English. These countries include the UK, Canada, and Australia. You will need to collect and upload your medical records. Onboarding instructions are here.
Is Ciitizen compliant with DPA 2018 and UK GDPR?
Yes, Ciitizen is fully compliant with UK data protection legislation including GDPR.
My child is 18 years or older. Can we participate?
Yes, as long as you are either the legal guardian or have power of attorney with authorization to make medical decisions.
Also, we particularly encourage families from underrepresented populations, including older children and adult patients, to participate in the study so that a full picture of the disease can be obtained. We want to ensure patients of all backgrounds are represented so as to reduce bias in the dataset.
But I’m already enrolled in Simons. Do I need to enroll in this also?
Simons has also partnered with Ciitizen and the STXBP1 Foundation, so if you are already registered with Simons, you will receive an email from Simons to join the Ciitizen Natural History Study. We encourage you to participate in both studies as it will make information more robust and comprehensive for researchers in studying STXBP1 disorders.
If patient families consent for their data to be connected across Ciitizen and Simons, researchers will have anonymised access to the structured medical data from Ciitizen, and the medical history and patient/caregiver-reported survey data in Simons Searchlight.
Also if you have already joined in Simons Searchlight, this is a good opportunity to complete your medical history!
What is a Ciitizen Research Summary?
Ciitizen uses a patent pending machine learning (ML) engine to take the thousands of pages of documents found in a patient’s history and summarizes the most important elements in a patient’s disease. Extracted data is verified by trained medical curators. The elements in this summary are then matched with clinical terminology codes so that researchers can immediately make use of this information, such as in clinical trials or observational studies.
If we participate in the Ciitizen Natural History, will we not be able to participate in the 4-phenylbutyrate clinical trial?
Participation in the Citizen Natural History Study will not affect eligibility for the trial.
I can’t find my child’s genetic report, and we aren’t a Simons Searchlight participant. What do I do?
For participants who can't find their genetic report and aren't a Simons participant, Ciitizen will get the genetic report. You will need to provide as much of the following information as you can:
The lab that performed the genetic test (likely GeneDx, Ambry, Invitae, Baylor, CHOP etc.). The name of the lab and their logo would have been at the top of the report
The institution / hospital that ordered the test
The physician that ordered the test
Is this a unique approach that STXBP1 is taking to rare disease Natural History Study?
No, many other rare disease groups are working with Ciitizen including groups representing neurological diseases that have similar symptoms and clinical profile to STXBP1. For example:
SCN2A
Rett Syndrome
FOXG1
SNC8A
SYNGAP1