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113 - The Benefits of Ciitizen: One Mom’s Story
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In order to improve care and develop treatments specific for SYNGAP1 disorders, a better understanding of the disorder is needed. One way is through collecting information in natural history studies. A natural history study is a type of research study that examines how a disease naturally progresses over time. This can be accomplished in many different ways including (but aren’t limited to) questionnaires and surveys collected over time or reviewing past medical records for trends seen among many patients with the same disorder.
Hear from Gayatri Rao, MD, JD, Director of Orphan Products Development
SynGAP Research Fund has partnered with several organizations with the goal to collect natural history information and bio-specimen samples for individuals identified with SYNGAP1 variants. Participating in research studies is an important method for increasing what we know about SYNGAP1 patients and accelerating development of future treatments and therapies.
Below is information on all the natural history studies as well as how they complement each other and work together. You can help us speed research efforts right away by building a readily-available pool of data on SYNGAP1.
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Enroll in the Ciitizen Study
Watch the September 2020 Webinar recording "Syngap Digital Natural History Study with Ciitizen"
Read this blog: Ciitizen: A major service to #SYNGAP1 families & researchers alike
Read this blog: 10 Reasons we chose Ciitizen for the SYNGAP1 Digital Natural History Study
Read this blog: The Benefits of Ciitizen: One Mom’s Story
Ciitizen is a SYNGAP1 natural history study that uses medical records to collect meaningful information on how a mutation in the SYNGAP1 gene has affected a person’s life and it includes medical record information across multiple hospitals and providers where a participant has been seen.
Important information that can accelerate research is often trapped in medical records. As a result, drug researchers can’t access the information they need to advance treatments. But, as a patient, you can unlock your records and contribute them to research in a private and secure way.
Cohorts of 50 participants will be enrolled in several rounds 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. International families with English medical records will be enrolled in the second round, with additional languages supported in the future.
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 share with any new providers they may see in the future.
The information gathered from health records can be used to further research and find better treatments for the SYNGAP1 community by sharing anonymized data with researchers, clinicians, and pharmaceutical companies. Academic researchers will have free access (with IRB approval), while industry and pharmaceutical partners will pay a fee. SynGAP Research Fund will receive a portion of this fee, which we will invest in further research on SYNGAP1.
Join the SYNGAP1 Study at Simons
Simons Searchlight is a study funded by the Simons Foundation that collects natural history information for families with specific genetic changes that have a known association to neurodevelopmental disorders, like seizures, developmental delay, and/or features of autism including SYNGAP1.
Simons hosts a secure place to share your genetic, developmental, and medical information. Simons also collects interview and survey data from families called “patient-reported outcomes,” which provide important information that complements medical history. De-identified data is made available to interested researchers for IRB-approved projects.
SynGAP Research Fund is excited to announce the joint partnerships of Ciitizen with Simons Searchlight and RARE-X. Through these partnerships, participants can consent for their data to be connected between Ciitizen and Simons or with Ciitizen and RARE-X. With this integration, researchers will have anonymized access to the structured medical data from Ciitizen and the medical history and patient/caregiver-reported survey data in Simons Searchlight or RARE-X. By linking individual patient data across these natural history studies in a secure, anonymized way, researchers will get deeper, richer, longitudinal data on SYNGAP1 patients to further accelerate our understanding of SYNGAP1 disorders.
If you experience any issues with registering or have a comment to share, please email aaron@syngapresearchfund.org.
Learn more about this study and sign up for RARE-X
RARE-X is a non-profit organization that offers a collaborative platform for global data sharing and analysis for rare disorders. Their goal is to help rare disease communities accelerate research and knowledge of a disorder while working to eliminate barriers to participation such as location, language, or time.
The data collection program involves general medical survey that asks questions on ALL systems of the body, whether they are associated with the patient’s primary diagnosis or not. This allows for patients with multiple diseases to enter all their symptoms in one data collection platform, starting with “head to toe” surveys which open up detailed surveys to capture more specific symptoms, e.g., seizures, muscles, vision, and GI.
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