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Parent Initiative Tackles Data Challenges In Rare Disease Research with Nasha Fitter


We’re speaking today with Nasha Fitter. Hello, Nasha.

Hello, Steve. It’s great to be here.

I saw you speak at the White House during rare disease week when they held a rare disease seminar, and I watched virtually. You said something very important to rare disease families, which is that you have an initiative going to focus on the collection of natural history data and its use, something very important to change the nature of rare disease research for the better. You’re also a rare disease parent.

Tell us about your daughter and the disease that she has and how that manifests.

Yeah. Thank you.

So my name is Nasha, and my daughter’s name is Amara.

She just turned eight years old, and she suffers from FOXG1 Syndrome, which is an ultra rare neurodevelopmental condition.

Most of our children are cognitively delayed, are not able to speak, are not able to move, are fed with a feeding tube, suffer from countless seizures and hospitalizations. So it’s a it’s a very severe condition, very similar to many other neurodevelopmental conditions as well.

You are an educated person with a degree from USC. You have a Harvard MBA.

You are the leader of the foundation for your daughter’s disease as well as the chief business officer for a company that is working on, data collection for rare diseases and making major change. So, how does all that fit together in your life? What is it like to have, a child with a rare disease like that like that while you’re also doing the kinds of things you’re trying to do?

You know, it’s it is crazy. There is a lot going on. But for me, it’s much easier to take something awful that’s happened and turn it into a sense of purpose. I find that that’s, you know, one way to keep going.

And I just I’ve gotten very attached to the other children with FOXG1 Syndrome. I’ve gotten very attached to other rare advocacy leaders and the pain that they’re going through. I’ve gotten very passionate about the lack of funding for drug development for rare diseases. It’s a real public health crisis, And it’s hard when you see these things to not do something when you feel like you can do something. So for me, I’ve used my background, which is business, tech, and data, to really drive forward gaps that I feel could help all of us if we fill them, not just my daughter, not just FoxG1 Syndrome, but the entire rare disease community, and that’s really what drives me to do the work at CIITIZEN, and then, obviously, with the foundation and and advocating in general.

Could you talk about, the your initiatives and the way you focus on natural history data collection? And what is the problem with natural history data in the first place, and what are you trying to do to change that?

Yeah. You know, one of the biggest issues we have with rare diseases is that the progression of the disease across the patient population is unknown. And because of that, it becomes impossible for a drug developer to create a solution. Until you understand what the majority of the population is experiencing and when they’re experiencing specific symptoms, you cannot develop a drug.

And it’s a huge issue with the lack of rare disease development. So when I began, you know, the FOXG1 Research Foundation with a group of parents, we really act like a mini biotech. We developed our own mouse models and cell lines. We started, you know, experimenting with different gene therapies and antisense therapies.

We built a small small molecule screening platform.

And the hardest thing for us was not the science, but it was actually trying to connect what we were learning in our animal models and cell models with the patient’s symptoms and figuring out a systematic way to collect that data. Right now, you know, observational studies, as they’re called, or natural history studies, entail academic centers setting up sites, and then patients will go at an interval of three months or six months or a year depending on the disease and answer a set of questions that, a doctor or physician will will provide to them. The problem is that when you have very few patients spread out across the country or across the world, think about the number of sites you need and then the cost per patient of those sites. You may have only a, you know, a few patients, a handful of patients that are able to visit a site in a certain location. So the cost becomes really high, and then the burden on families is extreme.

My daughter was actually in an in person study and on our second visit where, you know, I had to drive two hours to get there, she had a seizure and then vomited in the car, and I I never went back. And so these studies become really difficult to even get patients to come and do do the work that’s necessary.

For me, I found all of this really interesting because the truth is that all of us are interacting with the medical system pretty frequently. So I may not be able to drive two hours to go to a academic medical site to answer a set of questions, but I am going to see my daughter’s neurologist and her pediatrician pretty frequently. Right? We’re we’re going every three months in order to get our therapies.

She’s in and out of the emergency room. She’s seeing a host of different specialists. I’m interacting with the medical system. Amara is interacting with the medical system.

So there’s a lot of rich data in the medical record.

All of us have MyChart. The problem with MyChart is you are only getting structured information, and, actually, all of the rich information is in the unstructured text. You know? Doctors actually like to write. They write stories. They write the natural history of a patient, and it’s all completely unstructured.

So using my background, I really thought, look. Can we just collect the raw medical records and start extracting information from those records, those data points, put them on a platform, and then those data points can come together in different ways that help us us understand the disease and understand what patients are experiencing.

And that is what is at the heart of Ciitizen, and has we’ve been pretty successful is in using technology to really solve a pretty antiquated way of collecting patient information.

And natural history data is often, pointed out, to us. Janet Woodcock, when she was at the FDA, would say this to us when patient advocacy groups and rare disease biotechs were gathered in the same room with her. She say, you need to characterize your diseases better, you patient advocacy groups. You need natural history data. And it is well known in our circles that there is a lack of natural history data.

One of the things it does, it would allow regulators to compare the trial results of a clinical trial to something. How does the disease progress when there has been no interventional medicine? That’s natural history data. It’s and if they have that, then when the trial results come in, they can make a comparison.

And the the truth is that even in these smaller rare diseases that are single gene mutations, mutation, is it a missense? Is it a nonsense? Is it a truncation?

You’ll have actually a different slew of symptoms. Right? These these diseases don’t tend tend to be homogeneous.

And because of that, collecting natural history on as many patients as possible becomes even more critical as you’re trying to connect with biomarkers and in clinical trials.

Yes. And your your daughter’s disease is like many rare diseases, it’s on a spectrum. Right? There are Exactly. These diverse manifestations that different people have. Right?

That is correct. We have, you know, people even within our small community. We have close to a thousand a thousand patients now in the United States. You have patients that are able to walk and can and can speak in some sentences, and then you have patients that are completely in wheelchairs and cannot even move their head. Right? So it is a pretty vast spectrum.

And this makes the challenge even greater for the drug developers because there are so few patients as you’ve pointed out. And among those patients, a diverse manifestation. So coming up with some kind of statistical power is really unlikely in the case of many rare diseases. And so all the more reason why we need the kind of data collection that you’re now, embarking to do. Tell us a little bit about, the frustration and the problem with trying to get one’s own medical data or one’s child’s medical data given all the doctors and hospitals and clinics they’ve gone to?

Yeah. So we found out that on average, rare disease patients see six different providers. And, you know, we move, we change insurance companies, so there’s a lot of fragmentation. Our medical records are everywhere. And I would encourage everyone, go try to collect your own medical records and see how difficult it is.

Legally, as per HIPAA, you are entitled to all of your medical records, every single scrap of paper, every image that’s been taken of you, MRI scan, everything.

But accessing that becomes very, very difficult. And so one of the things we knew we had to do was take that burden off the patients.

Using the patient’s HIPAA right of access, we patients have access to their own data. Thanks to citizen, patients have access to their own data.

Thanks to Ciitizen. Now I do not have to run around with my daughter’s MRIs on CDs and going for second opinions. I just go to her, you know, go to her portal, and I’m able to download that information and then share it really easily. This is just critical, and whether you have a neurological condition, whether you have a cancer and you have to share your records for second opinions really quickly, We all need access to our data.

The amazing thing that we find now going through these records is that you will not believe the number of tests that get repeated because patients are seeing different specialists or when patients move. And it’s it’s insane, the burden that it that has put on patients and the medical system in general just because the new doctor doesn’t have access in the time that’s necessary to what the patient has already gone through. And so these are these are the things that we really need to resolve. And and and you it happens if the patient is in control of their entire medical history because at at end of the day, you change insurance companies, you change providers, but the patient is the center.

The patient is going through everything. So tethering to the patient, the patient owning all of their data, they are able to then take that data wherever they go, and and that’s critical.

Can you tell us about what is, the two organizations that you are, helping to run? And in one case, you’re in the lead up. Tell us about the foundation and tell us about Citizen.

Yeah. So FoxG1 Research Foundation, a group of parent led we call ourselves parent-led entrepreneurs.

And I do think there’s something really special about a parent and a patient driving drug development. We don’t have any other incentives. Right? We don’t we’re not trying to make money. We have one singular goal, and that is to get a treatment to our children as fast as humanly possible in the safest way possible. So it’s a very pure goal.

When you look at other folks in the ecosystem that are all very important, everyone has different incentives, but parents and patients have one incentive. So what we’ve seen is we’ve been able to move the needle pretty fast.

The biggest gap is, of course, funding, and that’s something that we are constantly fundraising for. And I know all of my other counterparts at other rare disease foundations are constantly funding for, fundraising for, and it is the hardest part. Our foundation has, we have identified a lead gene therapy candidate. We’ve done all of the preclinical work on our own, and now we’re taking that forward to clinical trials. And so we are doing all our toxicology work ourselves and regulatory work, interacting with the FDA, and, hopefully, we’ll run our our own clinical trial.

Initially, I was really hoping we would have a far a pharma partner by now. It it hasn’t happened, but in some ways, it’s been a blessing because we are able to really move fast without any other priorities, etcetera, and take this to our phase one clinical trial. So it it’s exciting times, and we’re we’re hopeful that we’ll be able to raise the funds and and really take our our program to the next stage.

And what is Ciitizen?

Ciitizen is a data platform.

It is a technology company that enables patients to join and control their own medical history and their own medical records.

And then what we do on the back end is extract that information so we can help pharmaceutical companies, academic researchers, and other accelerate their drug development efforts, all with patient consent. It’s all de identified data. So we are trying to enable and help the entire ecosystem of patients, patient advocacy groups, academic researchers, and pharma companies. And truly in rare disease research, all of these parties are critical, and they all do need to work together. So that that is citizen. It’s it’s really a platform built for patients and patient advocacy groups to accelerate their conditions.

I think it’s really wonderful how you’ve, brought together your business background, your technology background, and also your knowledge as a rare disease parent. Thank you for speaking with us today, Nasha Fitter.

Thank you so much, Steve, for having me.