Ever since SRF was created, we have received numerous requests to support Natural History Studies. They were all expensive and too slow. When we saw Ciitizen, we knew we had made a good decision by insisting on a better option and doing a tremendous amount of research. We are proud of our choice in Ciitizen to host our digital Natural History Study. Based on questions from other Rare Disease groups who are making the same choice and questions from our community members, we are sharing the most succinct summary of our logic here. In addition to the below, we urge you to read previous articles by Virginie and JR as well as this set of videos on YouTube.
If you have any questions or want to find out more, please reach out to anyone on the SRF Board. Thank you for sharing your data with Ciitizen, it will help all of loved ones with this disease. Sign up now Ciitizen.com/SYNGAP1.
1. Ciitizen is a patient-centric platform that was created when the founder, Anil Sethi, lost his younger sister to breast cancer. Anil built Ciitizen with the patient in mind. He had just spent the final six months of her life seeing what a mess medical records were and how much data was not being used to cure disease. This is why he ensured that patients are in control. Patients (or their caregivers) consent to be on the platform and join the NHS. The medical records that Ciitizen retrieves belong solely and wholly to the patient.
Indeed, unlike any other registry we are aware of, Ciitizen gives the patient full access to their information at all times. So as soon as the caregiver signs up they have a portal where they can request more records and see what is already collected. They are also able to share these records at will. This is very helpful when caring for a medically complex child.
2. The PI on this NHS is Elli Brimble, head of clinical operations at Ciitizen. Elli is a certified medical genetic counselor who sits on the SRF Scientific Advisory Board. She has seen SYNGAP patients in the clinic. The Ciitizen's Chief Regulatory Officer is Deven McGraw, former Deputy Director for the Office for Civil Rights under the Obama administration, and author of many of the patient HIPAA laws we use today. The CEO, Anil, before his sister fell sick, sold a company to Apple which became Apple Health Records. The head of Rare Disease at Ciitizen is Nasha Fitter, founder of FOXG1 Research Foundation and a rare parent, just like us. She joined this company to make sure that Ciitizen was available to rare patients. Her blog about this work is worth your time. The list goes on but, we are certain that this team could not be stronger.
3. The Syngap1 NHS has been approved by a central IRB (Pearl) as clearly indicated in the consent.
4. The data that is extracted from Syngap1 patient medical records is available free of cost to all academic researchers and non-profit organizations. We have presented the Ciitizen platform to various Syngap clinicians and there has been clear excitement to have this data available. This is because it will save them months if not years of work, this is time they can spend working on our disease. This is time our patients won't have to wait for a treatment.
5. Ciitizen has charged SRF a small fraction of what it actually costs to even do the work of collecting all medical records and images and creating our NHS. As a result SRF is able to absorb the cost and invite all families to participate at no cost.
6. In order to keep Ciitizen free for patients and nominal for advocacy groups, Ciitizen charges commercial entities only a license fee. This fee is lower than if these commercial entities established their own NHS, as it is Ciitizen's goal to make data on rare diseases more available and entice more companies to focus on Syngap1. It's also faster since the Ciitizen data is ready to go but traditional studies will take at least a year. Even better, Ciitizen shares a % of any licensing fee back to SRF so we can continue investing in basic research. Like all donations to SRF, 100% of these funds will go to research and data.
7. The Ciitizen NHS is a global, digital NHS. This means that patients do not need to travel to academic sites to take tests they have likely already received in the course of their treatment.
8. In 2020, we launched in the United States, and will expand internationally in 2021. This means that we will be able to accept medical records in English from any country. If you are in the UK, Canada, Australia, New Zealand, India or any other country where medical records are kept in English, please reach out to us to be included in the International rollout. We are currently looking into translation solutions for other countries now.
9. We began this work with Ciitizen in September. By early next year, we will have a Natural History for 100 Syngap patients complete. This is the fastest that any rare disease group has been able to accomplish a study of this size and quality. This work will help us understand our disease to make better day-to-day care decisions for our children, help our academic researchers further their work, and entice biopharma to focus on SYNGAP1.
10. My son will turn 7 next week. He was diagnosed when he was 4. I'm hopeful that by the time he is 10 there will be therapies we can use to increase the SYNGAP in his brain and therefore reduce his suffering--his seizures, his behaviors, his broken sleep, his confusion, his biting, his uncertain future, and so much more that keeps me up at night. I cannot fathom that when that therapy is ready, we would have to wait another year or two so that we could do a study of the population to see what we have to measure. As a SYNGAP community the one thing we are uniquely poised to do, empowered by a partnership with Ciitizen and the donors of SRF, is to organize our patient data and make sure that we help our children as fast as possible. Sign up now Ciitizen.com/SYNGAP1.