Global Genes Podcast: Empowering Rare Disease patients With Their Own Health Recods

Health records can be a rich source of data that can help provide an understanding of a rare disease and drive the development of therapies to treat them. But the siloing of this data, the use of inconsistent terminology, and the unstructured nature of aspects of these records all stand as barriers to harnessing their potential. The consumer health technology company Ciitizen is working to give patients greater control over their own health data and enable its sharing with researchers and providers. We spoke to Nasha Fitter, vice president of rare disease for Ciitizen, about her own experience as a mother of a child with a rare neurologic condition, her work as a rare disease advocate, and a collaboration between a group of rare neurologic disease advocacy organizations to build a natural history study on the Ciitizen platform.

Daniel Levine: Nasha. Thanks for joining us.

Nasha Fitter: Thank you for having me.

Daniel Levine: We’re going to talk about Ciitizen, its healthcare technology platform, and the potential to leverage the data available in electronic health records to drive faster diagnoses and new treatments for rare diseases. Listeners may know you through your work with the FoxG1 Research Foundation, which you co-founded. You became involved in the world of rare disease after your daughter began having seizures. What happened and how was she diagnosed?

Nasha Fitter: Luckily, the fact that she started having seizures got her a diagnosis much faster. She was diagnosed through the epilepsy panel from GeneDx and we found that she had a FoxG1 mutation about three months after she started having seizures. We always think that if she hadn’t had those seizures, it would have taken us years to get to a diagnosis because she would have just had an intellectual disability and we wouldn’t have been offered the ability to get genetic testing.

Daniel Levine: What were you told about FoxG1 at the time she was diagnosed?

Nasha Fitter: Interestingly, I was told not to go online because it would scare me. What I was told is that it affects gross motor, fine motor, communication, most children don’t walk or talk, they eat with a feeding tube, they have hundreds of seizures a day, and movement disorders. This was my first, kind of, information overload and I thought, God, life is over. What can I even do here? I learned going forward that there is a spectrum and there are many things that we can do. That was my first information overload and I think is what most parents receive.

Daniel Levine: How well understood is the condition today and how does it manifest itself and progress?

Nasha Fitter: It’s not understood. That’s why I’ve become so incredibly passionate about the need for data and making that data accessible. There’s not much known about FoxG1 syndrome. There are a limited number of patients. There has been a few research reports published, but it’s always a very small number. It’s a spectrum, like most diseases, and we need more data. We need more information on more patients to get a sense of how this disease manifests change over time.

Daniel Levine: What was the decision you made when you decided to launch the FoxG1 Research Foundation?

Nasha Fitter: It was simply that we need to accelerate finding a cure. Everything I learned is that if you want something done in a rare disease, you’ve got to get together with a group of other parents or patients and do it yourself. No one will care unless you care. It really wasn’t even a decision. I don’t think I even had a choice. It was just something we had to do.

Daniel Levine: The FoxG1 Research Foundation, in my mind, has a very clear strategy and is rather methodical in the way it goes about things. What’s the approach it’s been taking?

Nasha Fitter: That has actually been our number one approach, to be very strategic and very clear on what we’re doing and why we’re doing it. We get flooded with research requests from different scientists. Unless we really know what is absolutely necessary, you can start funding projects that may not necessarily help you get to your end goal. What we did is speak to biotechnology companies and biopharma to understand what it takes to get a drug developed in our children in a way that’s safe. With that understanding, we were able to work backwards on what are the different steps that are necessary for us to get to that point. We’re very ruthless with that. We don’t do anything if it doesn’t fit in that paradigm.

Daniel Levine: It seems to me, a lot of the thinking that’s driven your approach has been to de-risk drug development, so that companies would come into the space. How have you gone about doing that?

Nasha Fitter: That’s what it’s all about. It’s hard and it’s expensive. De-risking means understanding the disease. Companies don’t want to spend endless amounts of money on a disease that is not well understood. To understand a disease, you look at it in a forked approach. One is, to understand it from a biological pathways perspective, and that’s where you need to know the non-human ways that you can model a disease, animal models, stem cell models, et cetera. Then on the flip side is, how we can document what children or patients are going through in a very systematic way. With that combination, and with some proof of concepts, you’ve hopefully de-risked it enough for someone to invest millions of dollars to develop a drug.

Daniel Levine: In that context, how did you come to view the need to gather data and the role it would play in the process?

Nasha Fitter: I was very lucky that early on one of our SAB members, who runs a biotech company, told me if there’s one thing you do, conduct a natural history study. That is something that is really difficult for biopharma to do. It’s hard for biotech companies to access patients and contact patients but as an advocacy group we can do that. I took that to heart and plunged into how we collect good data. There were mistakes we made along the way. We started a registry and we created our own survey, and then later I learned that if it’s not an FDA validated survey, that information is useful internally but won’t be taken seriously. We, kind of, had to start over and get validated surveys, and we’re lucky to be on the Ciitizen platform where we can get rich clinical data, which is really what moves the needle.

Daniel Levine: In addition to your role as CEO of FoxG1, you also serve as the director of rare neurological diseases for Ciitizen. The FoxG1 Research Foundation received a $500,000 grant from Chan-Zuckerberg Initiative to allow groups like yours to use machine learning to accelerate rare disease drug development. This has funded a digital natural history program that FoxG1 syndrome launched with three other rare neurological disease groups in partnership with Ciitizen. Let’s start with Ciitizen. What is Ciitizen for people who are not familiar with the company? What’s the problem it’s trying to solve?

Nasha Fitter: The problem Ciitizen is trying to solve is, can we create an accessible platform where patients can access their own medical records, your raw medical records or your MRIs, and then can share it easily with whomever they want, it’s totally in the patient’s control. Then, can we use those raw medical records to extract relevant information to create natural histories that can then be shared freely and easily with researchers, academic or biotech. That’s kind of what it does. Then, I would say the problems we’re trying to solve are getting second opinions quickly for patients, getting matched to clinical trials, and further developing natural history studies for rare groups and larger groups.

Daniel Levine: How are the various organizations working together on the digital natural history study and what does it ultimately seek to do?

Nasha Fitter: I could not have done this without our pilot groups, the SynGAP Research Fund and TESS Research Foundation. We came together to figure out how we could utilize this platform. Ciitizen started in the oncology space due to our founder’s own personal story of losing his sister to metastatic breast cancer. I really felt that this platform is the future for rare diseases because we need this deep clinical data and we need it fast. We can’t wait three to five years to collect rich natural history data from in-person studies. It was perfect for the problem that we have in rare diseases. It was really TESS Research Foundation and SynGAP that joined us, FoxG1 Research, and, thankfully, CZI believed in us and gave us the grant to do this work. To actually have the first cohorts come onto the platform, sign up, have patients trust us, we’ve collected their medical records, and we’re now in the process of extracting information and creating these rich studies. SynGAP research fund will have data from a rich natural history study on a hundred patients in six months. That’s never been done before in the rare disease space. There’s already a plethora of researchers that are utilizing this data. I’m excited that this year we can showcase how this platform is a game changer for groups like ours.

Daniel Levine: Have you learned anything in the process of doing this about gathering data and improving the way it’s done?

Nasha Fitter: I think Ciitizen has completely gotten down how to collect data quickly. The most challenging part, I learned, is getting patients to come onto the platform. You have your early adopters who are invested in research and will come on. We have a chance with platforms like this to get our entire communities on. All caregivers and patients have to understand that this is a community effort. In rare diseases, you cannot hope that someone else is going to come and solve your problem. This isn’t breast cancer. Everyone has to do their bit. That means joining studies such as these, so we can collect a large cohort of data, as large as possible, to do a really rich study.

Daniel Levine: Is there any insight you’ve gotten into the resistance of patients to participate?

Nasha Fitter: I think this is a new innovative method. People haven’t heard about it before. So, there is a lot of education that’s necessary. Then, rare disease families are busy, they’re exhausted, and they think, is this one more study that I have to do? Will it go anywhere? Will it result in anything? There’s a lot of apathy to do things, which is completely understandable. Unfortunately, we have to work through that apathy to get something done. That’s what we’re hearing and seeing.

Daniel Levine: Because Ciitizen is actually pulling data from electronic health records, how is the burden of participation compared to a more typical natural history study?

Nasha Fitter: It’s a night and day difference. Here, all patients have to do is come onto a platform, get some of their documentation like their child’s birth certificates, et cetera, and take a picture of them so we have it. [This is] versus an in-person study where you’re having to get your special needs child in a car, drive to an academic center, spend half a day there, you may not live near a center and have to fly there, and you have to take days off work. It’s a huge difference in terms of time burden. But I think, many people are wary of technology. They’re wary of data privacy. These are important questions and there’s a lot of education that’s necessary.

Daniel Levine: How was the quality of the information that can be gleaned from electronic health records relative to the typical surveys that make up a natural history study?

Nasha Fitter: That’s a great question. One of the benefits of a platform like Ciitizen is that we can go back and collect 10 years of the data. You’re looking at 10 years of really rich natural history data because everything is collected, every progress report, every clinical note, every MRI, every EEG report. So, we’re able to piece together what is the continuum and true natural history of these patients. There’s not a lot of holes in the data because most patients have been seeing their neurologist or specialists in a consecutive way in order to get services. We’re able to actually pull a very large and deep amount of data. Also, we can normalize it because a physician in one institution may term something differently. I learned myself that there’s 40 different ways you can say heart attack. That normalization is also something that’s very valuable. Our goal is to look at data at the aggregate level. There is still a role for in-person studies and in-person visits because you can ask further questions. I’m really excited about, if there’s things that we want to further ask patients, can we use technology? Can we do video interviews, are there other ways that we can gather data without a patient having to necessarily go into a center? For me, the data can either supplement a current in-person study, or it could be a study in itself.

Daniel Levine: It strikes me that the other thing that’s possible here is, you normally think of groups doing these types of studies in isolation. You’ve got four groups focused on different neurological conditions working together here. Is the expectation that insights gleaned from one will help elucidate the other?

Nasha Fitter: Yes, exactly. We learned so much and there’s a lot we have in common and there are differences. That’s really been the eye-opener—that there is so much in common. We can scale faster through neurodevelopmental disorders. There’s a few things that we’re learning that are different and are very helpful to understand how these diseases differ from each other. That’s why when our foundation wrote the grant we wanted to include a few different groups that were similar in some ways, but also quite different in the types of genes, gene locations on different chromosomes, et cetera, so we could build something that was holistic.

Daniel Levine: You mentioned the challenges of getting patients to participate in the natural history study. What control do patients have over their data and how it’s used and what’s the incentive for them to make use of the Ciitizen platform?

Nasha Fitter: They have complete and total control of their medical records, as well as where the extracted data goes. It’s a completely patient-centric platform. Patients consent, yes I want to share my data with academic and biopharma researchers or I don’t, or I just want to be contacted on a study by study basis. It is completely up to the patient and they can pull their consent at a later date as well. It is very much a patient directed platform. The other thing that sometimes I think gets overlooked is, normally when you have biopharma that are creating these natural history studies, they do them individually. You’ll have company A doing a study for, I’m just going to make up a disease group, like SCN2A patients, and then company B may do a similar study. You’ve got a very small patient pool to begin with and then they have to enroll in two separate studies. That’s what we’re trying to break away from. We can just gather this data and put it on one platform. Then, however many companies that want to access the data can do so. It’s not owned by any one company or any one academic institution.

Daniel Levine: As a matter of disclosure for listeners, I perform work for the collaborative data sharing platform RARE-X. Listeners can hear a discussion that you and I recently had along with Vanessa Vogel-Farley about a partnership that Ciitizen and RARE-X recently entered. While I have you, what will that partnership do, and what does that mean for rare disease patients looking to drive research into their conditions?

Nasha Fitter: The future, how we’re thinking is how do we just accelerate, accelerate, accelerate, getting all this rich information. RARE-X is amazing because they have thought through very carefully, what are the right survey questions that caregivers and patients should take? This is a distinction that there’s some confusion over. There’s two types of data. There’s something called a PRO, which is a patient reported outcome, like a survey that we fill, and then there’s clinical, clinician reported outcomes, which is information that we glean from a medical record. There are two types of data and why the partnership with RARE-X is so powerful is we’re able to combine the expertise of both of those. Information that’s gleaned from PROs and then information that is gleaned from electronic medical records. One of the things I love about RARE-X is they realize that no one platform is going to own everything and be great at everything. The idea here is, we have our expertise, but the only way we’re going to accelerate rare disease is if we can open these pipelines. RARE-X may work with other companies like Ciitizen, and we may work with other organizations like RARE-X, and that is fine. It’s up to the patient or the advocacy group where they want to go. The goal is our platforms should really talk to one another.

Daniel Levine: As you think about the new ways that information technology is enabling people to gather and share information about rare diseases? How do you see this ultimately altering the landscape for patients?

Nasha Fitter: I think this is going to be one of the biggest game changers that we will see in our lifetime because over the next 10 years we will see a massive movement towards precision medicine. That will only work if there’s very granular information on a per patient basis. So, very granular genetic genomic information as well as very granular clinical information that also can be compared to other cohorts. I see the future of medicine very differently than how it is now. I see treatments that are going to be much more effective. We’re going to see better treatments. We’re going to see more transformational treatments. None of that is going to be possible without rich data, easily accessible by everyone in the spectrum.

Daniel Levine: Nasha Fitter, co-founder and CEO FoxG1 Research Foundation and director of rare neurological diseases for Ciitizen. Nasha, thanks as always.

Nasha Fitter: Thank you so much for having me for this important topic. I appreciate it.

How the Ciitizen FOXG1 Platform Drives Research and Helps Parents Manage Medical Care

Being a FOXG1 parent can be extremely overwhelming, especially when it comes to managing medical care.

In the rare disease world, it seems like many families have to become experts on their child’s diagnosis, so that they can teach their doctors and professionals about their children. If you’re lucky, you end up at a healthcare institution that has maybe a handful of kids with the same diagnosis, and you may have to go through several medical institutions before you get there.  With advancing technology, wouldn’t it be great if that clinical data could be compiled for you, stored for review at any time, and shared easily with your physicians?  

Ciitizen has a free service to help patients do exactly that!

What is Ciitizen?

Ciitizen is a free service that helps patients get more out of their healthcare records, by giving you access to all of your child’s medical records in one easy place. The best part, they do all the work for you.

For the FOXG1 platform, it only takes 10 minutes to sign up and then the team at Ciitizen takes it from there. Once everything is compiled, you just log in and see your child’s medical records at any time and you can share them with whomever you choose.

However, they don’t stop there--while parents benefit immediately from this service--Ciitizen has created an efficient process to extract information from the medical records they’ve already collected and continue to collect in order to produce a regulatory-grade natural history study for our community.

A New Kind of Natural History Study

Ciitizen’s machine learning and expert team analyze the digitized, de-identified patient data collected for all the FOXG1 patients within the Ciitizen platform. Ciitizen employs a team of experts in HIPPA law and medical coding, genetic counselors, software developers, and scientists to apply world-standard terminologies (like SNOMED codes, RXNORM codes, etc) to FOXG1 compiled data.

Traditional Natural Histories are essential tools for clinical trials, but they are prohibitively expensive, very time consuming, and they often require patients to resubmit to testing they have already undergone.

Ciitizen makes it possible to quickly and inexpensively utilize existing medical information to create a retrospective natural history to help better understand our children. These findings are available to families and shared with academic researchers and consented non-profits at no cost. And patients do not need to travel to academic sites.

The FOXG1 Ciitizen platform can save us years in getting treatments for FOXG1!

How This Supports Clinical Trials

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. Often companies developing treatments in rare diseases like FOXG1 need to establish and fund lengthy natural history studies in order to prove efficacy. This is costly, and it is not easy on patients.

In order to keep Ciitizen free for patients, Ciitizen charges commercial entities a license fee. This fee is lower than if these commercial entities established their own Natural History Study. 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 percentage of any licensing fee back to the foundations working on the FOXG1 community, so we can continue investing in our community!

Who can join?

The goal is to include at least 400 FOXG1 patients over three years. We are adding patients in cohorts. We launched the first cohort of 50 US patients in January.  The second cohort will open to 50 more patients and this time it is open to other countries as long as the patient’s medical records are in english. As part of our grant, we are adding validated medical translators to include  more languages later this year. 

How do I sign up?

Right now there is a Waitlist. We recommend you join this ASAP! We will be emailing everyone on the waitlist to make sure you join before it’s full. 

The Ciitizen portal for FOXG1 patients will open on May 12th, 2021.

There will only be 50 spots open. Get ready to grab one of those 50 spots by making sure you have the following read to roll:

We will walk you through the process!

We will host webinars for different regions: The US, UK & Canada, Austrailia and NZ, and Taiwan

Please join the webinar for your region so that we can walk you through the process and help guide you on important details about accessing your medical records.

The webinar links will be the FOXG1 Research Parents Connect group and will be emailed to everyone on the waitlist..

JOIN THE REGISTRY FIRST!

If you have not done so already, it’s imperative that patients have a registry profile before being added to the Ciitizen natural History Study.

Please go to the Patient Data Center and make sure your child’s dashboard is set up with his/her genetics report uploaded.

“Measurable improvements for our Kids”

A final note: when a pharmaceutical or biotech company wants to develop a treatment for a rare disease and they are choosing which rare disease group to invest in, they will want to know that the community is easy to work with. They will need to know that if they ask anything of our FOXG1 parents that can measurably improve our children’s lives, that we will be engaged, and actively involved.

This is why singing up for the NHS is the first step to show that we are the rare disorder they should choose!

We’re truly in this together!

Reach out to [email protected] with any questions.

What Does this New Digital Natural History Study Mean for Me?

The new digital Natural History Study Ciitizen platform supported by CZI

We hope you saw this incredible news that we received a nearly $500K grant from the Chan Zuckerberg Initiative to launch a new digital Natural History Study!

You might have some questions like, why is this so important for me? How can this help our kids? What’s different about this  NHS? How can I join it? 

I must start by saying that this platform will eventually be available to all FOXG1 patients, but we are launching the first cohort with only 50 patients in the US.  We will open this up to another 50 patients every four months and we will expand to more countries until we are global.  

Let’s start with how this will make your life easier! 

Imagine having all your medical records in one easy place?! Now you will. 

We have partnered with a company called Ciitizen, that will collect all of your children's medical records for you and keep them in one easy online home for you.  All you have to do is consent and they do the tedious part by calling all the medical records departments and gathering all your records.

Think of the benefits of this.. 

Many doctors we see have never heard of FOXG1 before. They should see the full picture as much as possible. Now, you will be able to easily share all your records with any doctor you see. If one doctor wants to see your latest MRI, or blood work, or GI doctor’s report, it will be there in your Ciitizen/FOXG1 account.  Managing your child’s care will be easier!

On top of that, as we move towards developing treatments for FOXG1 kids, researchers will need detailed patient data to develop treatments. Ciitizen uses machine learning to extract and analyze all the data to find the precise clinical end-points for clinical trials. And if a company that wants to develop a treatment for us needs this data, don’t worry it’s all anonymized. And you, the parent, own all the raw data!  

How do I participate? 

We’re launching the Ciitizen platform on December 7th with only 50 patients in the United States.

To be one of the first 50 you must:

• Live in the United States.

• Have completed the FOXG1 Patient Registry, with your child’s genetics report uploaded.

If both of the above criteria are met, please join the Waitlist here: www.ciitizen.com/foxg1

Again, all FOXG1 patients will be included over the course of the next year.

What you’ll need when we launch:

• A photo of your patient’s birth certificate uploaded to your computer. 

• Your driver license (to upload via mobile). 

• A list of the locations your patient has received medical care.  

Please REGISTER HERE to join us on December 7th at 2pm EST for a webinar that will walk the first 50 US patients through the on-boarding process and answer all questions.

You might be wondering, what does this mean about the in-person Natural History Study that FOXG1 patients have participated in? 

The data from that study is valuable and this new Digital NHS is a complement to it. With this new NHS:

• Patients do not need to travel anywhere! 

• This NHS is global; all patients in the world will have access.

• Data is completely easily accessible to your child’s care team and researcher.

We’ve already launched this NHS Ciitizen project with the SynGAP community with our partner the SynGAP Research Fund and parents are telling us how much this Ciitizen platform is helping them!

SynGAP will be onboarding their second cohort of 50 patients soon. We learned a lot about how the process is going for parents from the first SynGap 50 and it’s helped Ciitizen to make improvements before we launch! Here is a discussion with some member of the SynGAP that will give you great insight into the process.

Any questions, please email [email protected]

Once Upon A Gene Podcast Interview with Nasha Fitter on the new platform using medial records to advance research for rare disorders

Nasha Fitter is the mother of three daughters, one of which was diagnosed with a rare disease called FOXG1. After her daughter's diagnosis, she got to work and co-founded the FOXG1 Research Foundation. She's dedicated to leading the research strategy and finding a cure for every child in the world with FOXG1 syndrome. She's here to talk to us about her work as the Director of the Rare and Neurological Disease Division for Ciitizen, a technology company that enables fast and seamless access to patient data. In this episode, you'll learn about the most innovative medical record platform that will be open and accessible to parents, caregivers, clinicians, academics, bio pharma and researchers. Their goal is to eliminate the slow, manual and expensive processes that are currently used to collect data. 

EPISODE HIGHLIGHTS

Tell us about you, your family and how you came to be a part of the rare disease community. 

I have three children and my youngest daughter, Amara was diagnosed with FOXG1 syndrome when she was 9 months old, right after she started having seizures. Before that, I worked in education technology, but when this happened to Amara, my focus became her and how I could drive scientific research forward. I started the FOXG1 Research Foundation with a group of other parents and that has taken me along a journey where I came in contact with Ciitizen. I thought they were going to solve a need I was having within the FOXG1 community and that's how I became completely immersed in this research and community.

Tell us about Ciitizen and your role there.

Ciitizen is a platform that's patient mediated. Ciitizen collects all of your medical documents, digitize them and put them on a portal for you so you can easily access them and send them for second opinions. They have spent the last few years investing in machine learning and AI technology to read unstructured medical documents and extract data from them. This information in the aggregate can be used by academic researchers to further their research and understand disease progression and by bio pharma companies looking for natural history studies. Ciitizen is also working on clinical trial matching where patients can be matched to trials to be a part of. 

How do you get started if you want to have medical records digitized?

If you are a breast cancer patient, you can go to the website and sign up now. For other disorders, we're working with advocacy groups to build out the ontology, the framework of the disease. In the rare disease neurological space for example, we have started working on rett syndrome and mitochondrial diseases. We first engage with the advocacy group, get to understand the disease, talk to clinicians and invite patients to join the platform. 

Can doctors, geneticists and scientists access the platform and perform their own search?

The platform is free for clinicians and academic researchers who are the most excited about this program because they don't have accessible information about everyone in a rare disease community. Clinicians are finding this is a really easy way to look at data in a scaled way for a specific disease group. When you go to a clinician for a second opinion, they have to gather and sift through your prior medical records. Now they can use a neuro card where we have listed out all the critical elements with easy access to the records and get a good sense of data before your appointment. We're saving clinicians a ton of time.  

If all these medical records are in this database, how do we protect our privacy?

Ciitizen is HIPPA and GDPR compliant, all of your data is stored securely and with an audit trail. You own all the medical records, so no identifiable information can be shared with anyone unless you choose to share them. All Ciitizen can do is share your non-identifiable aggregated data, which means everyone in you cohort with a shared disease has aggregated information that can be shared with researchers trying to find a cure for your disease. The security is really important. 

How can parents and caregivers help move this platform forward?

It's a joint effort. We are onboarding SYNGAP patients next week and we have a partnership with that advocacy group to find a cure. Having advocacy groups is so critical. Within the rare disease community, groups need to centralize and come together. We're hoping to work with various advocacy groups to help them in a joint effort and to bring in patients.

What is a natural history study?

A natural history study is clinician-entered data that can be supplemented with patient outcomes. Traditionally, academic centers will conduct a natural history study, patients will travel every few months for doctors to collect information. The problem with the model of these natural history studies is that they're expensive, they decide who they share it with and what they do with the data. The beauty of a digital natural study is that data can be collected from anywhere globally, patients don't have to travel and the data can be shared with every pharma company interested in the disease. 

What final thoughts do you have for parents and caregivers?

The main takeaway for patients is that you have a strong voice and your data can go far. For advocacy leaders, it's your responsibility to gather your patients and create digital natural history studies. It's important for the community that you provide data that helps them make better decisions and that you're providing academic researchers and pharma companies access to data that helps your disease get on their radar. It's important for advocacy group leaders to take initiative and for patients and community members to contact your advocacy leader about a natural history study. 

The Rare Disease Crusaders

A feature about our FOXG1 Research CEO and Co-founder Nasha Fitter from the Ciitizen Blog…

My daughter was seven months old when she had her first seizure. It scared me to death, and her spells would continue for months until we discovered the reason:

she suffers from a severe and rare neurodevelopmental disorder called FOXG1 syndrome. 

It wasn’t until weeks after her diagnosis that I found the courage to go online and read about the condition: due to a genetic protein deficiency children experience severe intellectual disability, epileptic symptoms, and many never walk or talk for their entire lives.

I vomited immediately after reading that. 

The subsequent months were full of terror and grief, but eventually my sadness evolved into determination and I took action, joining a group of parents like me who were piggybacking on a wave of scientific progress to find cures for their children’s rare disorders. Today, we call ourselves the Rare Disease Crusaders.

Considering the amount of energy and campaigning required to find answers for our kids, I think “crusader” sums up our struggle quite accurately. We have become de facto pediatricians, neurologists and scientists, as many doctors have never heard of FOXG1. We have developed mouse models, learned how to turn skin cells into neurons and spoken directly with biopharma about gene and antisense therapies. 

Yet, no matter how much we learn about our children, we’re lacking the one informational resource that can actually move the needle in transforming their lives: aggregated clinical data.

Computational data is the key to medical research. Without it, no biotech company will invest the time or the money to find therapies for our children, and we have neither the time nor the capacity to keep educating the medical industry on our own.

Having spent the majority of my career in tech, I am still fairly confused as to why healthcare  operates in the dark when so many other industries have successfully used data to solve major problems. I don’t understand why our neurologist doesn’t have access to a database of medications for FOXG1 patients around the world. I’m terrified by the fact that she is making decisions for my child and prescribing her heavy antipsychotic drugs based on a limited experience from treating two other FOXG1 children.

Research is also failing us. Natural History Studies—when researchers collect clinical information on a group of patients and use that data to inform drug development—are done in a completely archaic manner. If we are lucky enough to find someone who has spent the millions of dollars necessary to sponsor a Natural History Study for our specific disease, we then have to fly or drive our medically fragile children to a few select academic institutions that may or may not be anywhere near our home.

Once there, they ask us the same questions that we answer for our local neurologists every few months. Once we’ve given them our information, neither they, nor our biopharma partners, can access the aggregated data we need to improve research because many of these institutions don’t share.

But given that every patient has a right to their own medical data, there’s a solution right in front of us: we take control of our own medical records and share them to create the database we need.

I joined Ciitizen and initiated our entry into neurological diseases because I am both passionate and desperate to find an answer for my daughter. At Ciitizen, we’re creating a platform where medical records are collected on behalf of each patient, then automatically digitized into the computational data we need. From there, sophisticated machine learning technology is used to extract clinical data in order to create regulatory-grade Natural History Studies that do not require exorbitant amounts of time, energy, or money. Patient reported outcomes can then be added by us parents. 

More importantly, this database of computational data we’re creating will be accessible and open to all patients, parents, caregivers, clinicians, academics, and biopharma researchers. Our goal is to eliminate the slow, manual, and expensive processes that we currently use to collect information and use the best technologies to be quick, cost-effective and more accurate when it comes to developing research.

I am eager for the day I can search this database for “movement disorder” and find exactly what medications other FOXG1 children and children affected by similar neurodevelopmental disorders are using, and which are most effective. I am eager for my fellow Rare Disease Crusaders to tell biopharma there is a platform available where they can easily access Natural History Studies, and clearly see that our diseases are worth investing in. 

At four years old, my daughter is still completely non-verbal. I’m hoping I can one day hear her speak. Only in my dreams does she come up to me and say, “Mama, I love you.” 

Nasha Fitter leads the rare and neurological initiatives for Ciitizen and is the CEO of the FOXG1 Research Foundation (http://foxg1research.org)