Ciitizen’s mission is to empower seven billion citizens across the planet with all of their health data. When you control your data, you have more options. For your own care, and to advance research for others.
Observational Studies and real-world evidence are critical to the drug development process. Ciitizen has developed a new method to make this process easier.
A next-generation, digital Observational Study for SCN2A-related disorders is expected to facilitate:
- Informing clinical researchers how a disease changes over time
- Enabling better endpoint selection to use in clinical trials
- The connection between mutation types and symptoms to facilitate targeted therapies
- Reducing the time it takes to study new medicines in clinical trials
- Speeding up the time to get therapeutics to patients
- The use of data as a placebo (instead of actual patients) in a clinical trial
This study will complement the International SCN2A Natural History and real-world evidence studies for SCN2A-related disorder patients. Become a Ciitizen and help advance research and accelerate treatments by clicking here!
Please note that this is only available in the US however Ciitizen plan to expand globally starting in April.
Virginie McNamar is the Project Manager for Neurological and Rare Diseases at Ciitizen and Patient Engagement Director, at Syngap Research Fund. She has been involved in the rare disease community since 2016, the year her son Ty was diagnosed with Syngap1, a rare genetic disorder.
Virginie is originally from France and before her position at Ciitizen, worked for 14 years as a Product Director for a software company. You can read Virginie’s blog here.
Ms Kris Pierce RN MHSc MWellness, is a rare disease advocate and mother to Will who has SCN2A. Kris has held a range of board, project management, advocate and consumer representative roles and has been instrumental in working with local, state and federal governments to secure funding for multi-million dollar projects. Kris is highly skilled in building teams to work together collaboratively and is a co-founder of Genetic Epilepsy Team Australia (GETA) and SCN2A Australia, and a RARE Global Advocacy Leadership Council member.
Welcome to SCN2A Insights bringing you the latest research and clinical updates on SCN2A and genetic epilepsy from around the world.
Dr. David Cunnington: So welcome to this episode of SCN2A Insights. I’m David Cunnington.
Kris Pierce: And I’m Kris Pierce. In this episode, we speak to Virginie McNamar who is the Project Manager for Neurological and Rare Diseases at Ciitizen.
Dr. David Cunnington: I’m really looking forward to hearing from Virginie because it’s exciting what Ciitizen can actually do with patient data and use some new technologies like machine learning to be able to bring everything together and give a perspective so that all of these desperate medical records for our complex kids can be held into one place, and that’s a great asset for researchers as well as for families. And Virginie will explain a little bit more about how that works and some of the benefits it can offer.
Kris Pierce: So welcome, Virginie.
Virginie McNamar: Thank you. Thank you for having me.
Kris Pierce: Can you introduce yourself, your background, and how you ended up at Ciitizen?
Virginie McNamar: The main reason I’m at Ciitizen, I am the proud mom of a little boy, Tyler, who has SynGAP and SynGAP1 which is a rare genetic disorder, very similar to SCN2A. And we rolled out the Ciitizen platform and the study for our community and I was very involved in that project and absolutely was amazed by the company, the technology, and what it was doing for research and families as well. So when the opportunity presented itself to join as a Project Manager, I just jumped on it.
Kris Pierce: And can you tell us a bit about Ciitizen and its history, how it came about?
Virginie McNamar: Sure. So Ciitizen started first on the cancer side of it where Anil, the founder, his sister was diagnosed with stage 4 breast cancer and they traveled across the country in trying to find different opinions and try to find really the best care for her and that’s where he realized how every time he had to retell the story, the medical records were not going from one place to the next and it was just pure nightmare. And he really felt that things – the outcome could have been much better if everything would have been streamlined if they could have all the records in one place, and there’s so much information in it that she could have been matched with a clinical trial better. The possibility would have been much different. So that’s how he started Ciitizen.
The idea behind it is to give power to the patient and to give them more control over their health. And now, we are in the neurological space of rare diseases. Helping families get access to all of their medical records in one place, which as you know, can be difficult because we – our kids are seen in multiple institutions. Some countries will charge you to get access to your medical records. And then to advance research, there’s so much information in those medical records. Those are reported by doctors. There are doctor notes. So we, at Ciitizen, go and we have a machine learning that goes in and extracts key information from all those medical records, organizes it, and summarizes it in a way that makes it easy for researchers to get the information they want.
Kris Pierce: Obviously, there are a lot of advantages for families to sign up. Patient groups and industry are starting to connect with Ciitizen as well. What’s in it for the organizations?
Virginie McNamar: You get a much better understanding of the disease itself like in your community, there’s a lot of different – it depends on the disease, but I know I’m just going to give SynGAP as an example, it’s helping us match the phenotypes with the different variants. Like it just gives so much information to advocacy groups and helps them then support the patient community better Traditional natural history studies take years and years to put in place.
It takes a long time to collect all of that data and it really usually requires a family to travel to clinical centers, which can be difficult when you have to deal with special needs children or young adults. We still have access to all that data and it’s a lot more affordable.
Advocacy groups don’t have the means for rare diseases so fundraising is hard. It does not have a whole lot of money. And Ciitizen is definitely a lot more affordable than traditional natural history studies.
Now, if groups have them in place, Ciitizen does not replace it. It’s an added tool to the toolbox, right? If you have a registry, all of those datasets are important and can talk to each other.
Kris Pierce: Yeah. I was going to say because SCN2A has a Natural History underway and I understand that there are ways that those connect and interrelate and benefit each other.
Virginie McNamar: Absolutely. Ciitizen is not there to replace all of those studies that are already existing. It’s just like I said, it’s another layer of important data that is added to the ecosystem.
Kris Pierce: Yeah. And it’s important for families to understand that their efforts are being brought together and not being siloed and managed by one group.
Virginie McNamar: That’s the goal in each rare disease is to have the data flow and really just try to link everything because that way, you get the full picture.
Kris Pierce: So recently, the SCN2A community has partnered with Ciitizen. That was supported by Praxis who is working to develop treatments for SCN2A. What do the families need to do to support this effort?
Virginie McNamar: It’s really easy. It’s one of the easiest thing family will be asked to do I think in their course of the rare disease and big part of communities. It takes 10 minutes for US-based families. They go to the landing page, it’s Ciitizen.com/SCN2A. They click on “Register” and then they sign up.
During the sign-up process, they will be asked to agree to two different consents, one is the research consent and then the other one is sharing their contact information with FamilieSCN2A. And then after that, we will be asking a few questions about EEGs, and genetic reports. But then they will get to the portion where they are asked to list all the institutions that their loved one has been seen at. Upload their birth certificates and driver’s license, and those two documents are simply to allow Ciitizen to go and collect the medical records on behalf of the families. And then that’s it. It takes – the whole process takes about 10 minutes.
And then a few weeks later, families are going to receive an email, which is an exciting email saying, “Medical records are on your dashboard.” If they are like me, they will drop everything that they are doing and they will go on their dashboard and they are going to start reading pages and pages of medical records that they haven’t seen before, doctor’s notes. It’s an exciting tool for families as well.
Dr. David Cunnington: Yeah. And you talked about the machine learning algorithm and that is going to obviously help with researching. Does any of that translate into the dashboard that families can see?
Virginie McNamar: So we have powerful machine learning. Now, it takes – it’s going to take years, maybe not years, but it’s going to take some time to have the machine learning to be perfect in extracting the right data for the right group, right? And that’s where scientists and researchers are excited about Ciitizen, the data is the gold standard. We have the machine learning that it’s doing its job but then we have three pairs of eyes going in and double checking, triple checking, making sure everything is all correct and it’s referencing back to the medical record. And then it’s organized in a way that is very digestible to families on what we call the Neuro Cards.
And so, we have different entities of medications, growth, imagine, like everything is all organized in different categories which makes it very easy for families to find the information they need. Because we are always asked information about our kids, right? It’s, “When do you have his first EEG? When did it have – what medication did they start?” It’s hard to keep track of everything. And now, we just go back to – I just log in. Personally, log in to Ciitizen and just find information really easily. And we have a lot of families sharing those similar experiences as well.
Kris Pierce: Can you give us some feedback that you’ve been getting from families like when they get that email? What sort of stories are you hearing?
Virginie McNamar: Yes. Those are great stories because like I said, at first, the focus of Ciitizen is helping patients. When we can help patients, we can help advocacy groups, and we can help researchers, that’s like of course being done for us, right? And so now that we are having – we’ve had several neuro groups on the platform, we start getting feedback from families who have used this and who are on Ciitizen now and some of them as just like they use it for the second opinion and they said, “It would have taken me so long to go back to all the different hospitals we’ve been seen before, ask for the records, I would have to pay for it. The process would have taken so much time.”
And now, we have families saying, “It took me literally 2 minutes, logging in on my Ciitizen account, clicking on ‘Share’ and share all the medical records with the new providers that we want a second opinion for.” So that is powerful. So we are getting those quite a bit.
A family saying, “It’s helping me gain so much time for second, third opinion.” Especially as you know, when kiddos have epilepsy and it’s hard to find the right neurologist, the right treatment, the right – and so families are often looking – changing providers to find the right fit.
We are getting families saying they had an IP meeting where they – or any other meeting where they had to fill out medical questions and they just like, “I just had to log to my Ciitizen account and find the information right there. Something that would have taken me hours to fill out, now took me minutes because I had all the information in my fingertips.”
Kris Pierce: And can they actually print out from the …?
Virginie McNamar: Yeah, they can print, they can share, they can email, they can …
Kris Pierce: And at the minute, Ciitizen is based in the US, but you have – Ciitizen has plans to expand internationally. Can you talk about that a little bit?
Virginie McNamar: I mean as you know, rare diseases, the whole population is not just in the US so it’s very important to expand and allow other families overseas to join. So in April, we will open up to – we have several groups already lined up for the international opening and they will be mainly for English-speaking countries so Canada, the UK, and Australia. The on-boarding is going to be a little different for international families but the benefits are still going to be the same. So April is when we start – when we will open for English speakers overseas. And then we are definitely looking at expanding beyond that for different languages and everything. But then we have to figure out how to handle different languages and just like summarize it in the same way and provide the same quality standard in the data extraction.
Kris Pierce: Each country’s health system is very different so …
Virginie McNamar: Absolutely.
Kris Pierce: … you got to work with the people in the country to work out how that’s going to work.
Virginie McNamar: When we first opened in April, patients will have to go in and collect their own medical records but we will coach them on how to do that. And then eventually, we hope to be able to do it on their behalf in so same way we do in the US. But right now, phase 1, families will be able to just collect their medical records, upload them or mail them to us for us to upload on their behalf.
Kris Pierce: This has been great information. It’s extremely powerful. I’m really excited for the SCN2A community but also the greater rare disease community. This is life-changing I think for many of us. So just the best place for families to land for information around this and to get on board.
Virginie McNamar: For SCN2A families, the best place to go is Ciitizen.com/SCN2A. And on that page, they will have information. If they have questions regarding why some documents are required or any concerns, at the bottom of the page is a good FAQ section with a lot of information there. They can always reach out to me or Nasha. Our team is always happy to answer questions from patients and families.
The best place to start is Ciitizen.com/SCN2A. Click on “Register” and it only takes 10 minutes. And if you want to save some time, have the birth certificates, the driver’s license, and your genetic report ready. That’s another point that I like to make. The genetic report ironically is usually the last document we can get our hands on and that’s the most important document because it’s the one that confirms the diagnosis. So if families have it already, definitely upload that first. That’s going to save a lot of time for our team.
Kris Pierce: Well, thank you for your time today. I think this will be really helpful for families who are just wanting a bit more information about what it is and how it fits into the bigger picture of the data collection for groups like SCN2A so it has been a really insightful conversation. So I appreciate your time.
Virginie McNamar: Yeah. Thanks for having me.
Dr. David Cunnington: So Kris, thanks for setting that up. What were your takeaways from that interview?
Kris Pierce: Virginie clearly explained the power of this for families that have all their data in one place not only helps researchers but it helps us manage our child. Now, of course, this is starting in the US and they are looking forward to helping Ciitizen expand globally. Being able to be in charged and empowered by having access to all that information is pretty exciting.
Dr. David Cunnington: So I hope you enjoyed this episode. Keep up with the latest updates by subscribing to this podcast and you can get regular updates on what we are doing at SCN2A Australia through our Facebook or Twitter @SCN2AAustralia. Thanks a lot.
Kris Pierce: Thank you.
This podcast is not intended as a substitute for your own independent health professional’s advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider within your country or place of residency with any questions you may have regarding a medical condition.