JR is a SynGAP mum who with a PhD in Genetics, she is an active member of the SRF parent Medical-Science team. This article is second in our #SRFDoCiitizen series, read the first article from Virginie.
One of my sons has a rare neurodevelopmental disorder that has only been identified for a decade, half as long as he’s been alive. (The first SynGAP1 Encephalopathy diagnosis was in 2010 by Dr. Michaud.) Our impressive list of medical specialists keeps growing, and I must verbally account for his detailed and complex medical history at each appointment. None of the doctors we see have heard of SynGAP before I walk into their office. SynGAP treatments are currently being developed, and researchers will need detailed patient data to run successful clinical trials. The need for medical record management and analysis is at an all-time high in our community, to manage medical care for our loved ones, and to test treatments.
To the rescue: Ciitizen and Syngap Research Fund are partnering to leverage our existing and ongoing patient medical records into a powerful set of data. Signup for families is quick and easy. SRF created this opportunity by convincing Ciitizen to help our disease community today rather than some day. Ciitizen does all the work to collect and analyze records. This project helps individual families and at the same time contributes to the detailed characterization of our patient population. ciitizen.com/syngap1
The SynGAP Individual: The family of each SynGAP patient has unlimited access to all their patient records, online in the Ciitizen portal, in a format that is searchable, shareable, printable, and completely yours, forever. You list the places your patient has had medical care and consent to share the information with Ciitizen, and the Ciitizen team gathers all the medical records, digitizes and analyzes them. It is easy: families are not asked to undergo medical tests or imaging, not required to travel to a centralized doctor or hospital, and are not charged any fees. No fees for signup, no fees for record collection, no fees for looking at your data, no fees for data summaries.
SynGAP1 Encephalopathy characterization: Ciitizen analyzes the digitized, de-identified data for all the consenting SynGAP patients within the Ciitizen platform. The group findings are available to families, and shared with SynGAP researchers. Ciitizen employs an amazing team of experts (in HIPPA law and medical coding, genetic counselors, software developers, and PhD scientists). They use world-standard terminologies (like SNOMED codes, RXNORM codes and others). They also identify issues with codes that come up for rare disease patients and push for the adoption of new SNOMED codes that help describe our disease state in increasingly relevant detail. In September they had already requested nearly 200 new codes based on their work in Rare Neurological diseases. The addition of codes will allow certain features of our syndrome to be analyzed instead of lost due to a lack of “vocabulary.”
The business: Ciitizen was started with founder and venture funding. Ciitizen is a success for its first community, cancer patients, with mainstream diseases like breast cancer as well as rare cancers like cholangiocarcinoma. They are now expanding to serve the neurological disease population. ciitizen.com/the-rare-disease-crusaders/ SynGAP is one of the first rare, neurological diseases to have access to Ciitizen due to the hard work of the SynGAP Research Fund. SRF is paying Ciitizen a fee, a fraction of the actual cost of the work for SynGAP families. Patients pay nothing now or later. Eventually the business model calls for pharmaceutical companies who are interested in the digitized natural history-type data to license the non-identifiable data. Why would they pay for the data?
High value data: Natural Histories are essential for clinical trials, but they are prohibitively expensive, very time consuming, and re-test patients for things that they have already been tested for. Ciitizen has created an efficient process to extract information from the medical records we’ve already and continue to collect.
To test a treatment, we need actual physical measures that show progress over a range of patients with different ages, genetic backgrounds, severities, and medications. This is not simple. The partnership between SRF and Ciitizen is filling this essential step toward therapies and cures for our Syngapians.
Success: The first cohort of 50 patients already enrolled and are enjoying having their data in one place. The first read out will be shared at the 2nd Annual Syngap Roundtable and we encourage you to attend, there is no cost to register.
One thing that makes ciitizen so powerful is how little work families have to do & how much they get back.
How do I participate? Gather a photo of your patient’s birth certificate, your driver license, and a list of the locations your patient has received medical care. We expect the next cohort to start enrolling on December 1, 2020. Please go sign up at ciitizen.com/syngap1. When you click Get Started, you will either join a waitlist or begin enrollment. Use the chat tool if you have questions. Ciitizen will collect and analyze information from another 50 US families over several months. Our community is incredibly lucky to be one of the first rare neurological syndromes addressed by Ciitizen.
Please join: This project is the most important and useful thing families can do to accelerate treatments for our SynGAP patients. Signing up and consenting to the use of your records is something that only you, a rare disease family, can do. Please consider if it is right for you. In the future, I see treatments that help our kids. I see people finding out about this disease, and having a better prognosis than the current one. This project is a necessary step to that future.
Watch this: Make sure to watch this #SRFWebinar to learn more about ciitizen. The speaker is both a member of the SRF Scientific Advisory Board & the head of Clinical Operations at ciitizen.