Patient Advocates do more than raise money—they are active participants in the drug development process. While the ALS Ice Bucket Challenge garnered global attention, lesser-known patient advocates also flex their expertise to drive new treatments and cures. In this episode, we talk with two moms, one who is a patient herself, about their work as partners in research and development, helping bring treatments for two rare diseases to the market.
Patient Advocates do more than raise money—they are active participants in the drug development process. While the ALS Ice Bucket Challenge garnered global attention, lesser-known patient advocates also flex their expertise to drive new treatments and cures. In this episode, we talk with two moms, one who is a patient herself, about their work as partners in research and development, helping bring treatments for two rare diseases to the market.
Susan Ruediger, Founder and Chief Mission Officer, CMT Research Foundation
Nasha Fitter, CEO, FOXG1 Research Foundation
Speaker 1 (00:00):
I have now been challenged several times to do this Ice Bucket Challenge.
Speaker 2 (00:10):
In 2014, the masses came together in a viral sensation from Oprah and Justin Bieber to everyday people. All enduring buckets of ice cooled water enthusiastically in hopes of bringing awareness to ALS.
Speaker 3 (00:26):
The ALS which is...
Speaker 2 (00:26):
The initiative spurred millions of dollars in donations to help fight the debilitating disease.
Theresa Brady (00:33):
We are all familiar with the Ice Bucket Challenge started by relatives, friends, and patients suffering from ALS. It exploded on social media raising awareness and millions of dollars. That money was certainly put to good use. Recently, the FDA approved a new drug to treat ALS that was developed with over 2 million from the Ice Bucket Challenge. This is the power of the patient's voice.
Theresa Brady (01:10):
Today, our two guests will talk about their challenges and triumphs as patient advocates for two rare diseases. We will learn what it takes to expedite the delivery of treatments from people who have no time to waste. I'm executive producer Theresa Brady, and you are listening to I am BIO.
Theresa Brady (01:48):
Our first guest is a patient with a rare disease. She also works full-time to push the envelope and discover treatments not only for herself, but for others and future generations.
Susan Ruediger (02:01):
I am Susan Ruediger and I am the Chief Mission Officer of the CMT Research Foundation.
Theresa Brady (02:07):
Susan suffers from a disease called CMT, which was discovered back in 1886. The disease is named for three doctors who discovered it. Jean-Marie Charcot, Pierre Marie and Howard Henry Tooth. This is how she explains it.
Susan Ruediger (02:25):
CMT is a genetic nerve disease that affects all of the nerves outside of your brain and spinal cord. If you think about your nerve, like the wire that connects your headphones to your telephone, it's really made up of two parts. You have the wire on the inside that actually sends the signal, and then you have that insulation on the outside, the part that you can touch in your headphones.
Susan Ruediger (02:52):
We all know that when we have shorts in the wire of the headphones that we don't hear the signal or we don't hear it well, or it's scratchy or it breaks up. And this is the same thing that happens in CMT when the nerves degenerate. That wire on the inside is called your axon, and that can lead to nerve degeneration and that can be affected in CMT. But the outside of the wire that we have on our phone cord also exists in your nerve, and that's called the myelin.
Susan Ruediger (03:24):
And the myelin is insulation to the nerve. It also provides nutrients to the axon. And in CMT, the axon itself can deteriorate. That's the wire on the inside or the myelin can deteriorate, and that's the insulation on the outside of the nerve. And either one of those deteriorations in CMT can lead to the loss of signal being sent from your brain, to let's say your big toe. So I have CMT. I have CMT1A, and my myelin is dysfunctional. So when my brain tries to send a signal to my big toe, it doesn't get there because my myelin has deteriorated and my axon has deteriorated and it's actually disconnected from the muscle in my big toe. So there's no signal to send. It's like unplugging your headphones.
Theresa Brady (04:17):
Although considered rare, approximately 3 million people globally suffer from CMT. Susan's personal journey with the disease is what drives her today.
Susan Ruediger (04:27):
My family has six generations of CMT, and right now there are 18 of us alive with it. Growing up as a child, I recognize that members of my family move differently, but I didn't realize that there was a genetic reason why. I just thought we were a little uncoordinated or a little different. And I, growing up as a child, tripped frequently, wasn't able to keep up on the playground or that dreaded presidential physical fitness test that we used to take. I wasn't able to compete athletically in sports and I was always picked last for the teams.
Susan Ruediger (05:06):
I just thought I was an awkward, clumsy kid. But because it was part of my family's story, it wasn't anything that we really talked about openly. It wasn't until I was 17 and I was so frustrated with the way that my body was moving that I sat down with my mother and said, "What is going on with my body?" And that's when she told me about my CMT.
Susan Ruediger (05:28):
At that time, getting that diagnosis was a huge relief because I knew that there was something definitively wrong with me, but then I buried it. I buried the diagnosis, I buried the CMT. Now, it was time for me to just get on with my life until I was 32 when I was in the labor and delivery room at the birth of my daughter.
Susan Ruediger (05:51):
My mom was there with me and my mom also has CMT. And the minute my daughter was born, I looked at my mom and said, "That's it. She's not going to suffer the way that you and I have and we have to do something about this."
Theresa Brady (06:05):
And then Susan went to work.
Susan Ruediger (06:08):
I started the CMT Research Foundation with my co-founder, Pat Livney, who also has CMT. And while I come from that family with a large background and six generations of CMT, he's the first in his family to have it. And nobody knew what was going on until his late teens. He also has a very, very rare type that actually the genetic mutation hasn't been definitively identified as causing his CMT. So we are so frustrated that we don't have anything that we can do to stop the progression of our CMT or maybe even reverse it. There's nothing and we decided we needed to change that.
Kurt Rasmussen (06:57):
I think it's really important for rare disease groups to understand the role industry plays, that you won't get treatments developed by a professor at university. They do not have the resources nor the skills to do it, and industry plays a really important role in that.
Theresa Brady (07:20):
From the outset, Susan and Pat were very strategic in structuring the organization and selecting the projects that they would undertake.
Susan Ruediger (07:28):
Every project we look at is evaluated through [inaudible 00:07:33]. Is it clinically relevant? Will the patient's care about the outcome? Number two, does it have the foundational science to be interesting and hopeful? And three, will the outcomes be relevant enough for a pharmaceutical company to want to acquire the project and carry it forward into clinical trials?
Theresa Brady (07:56):
The research foundation strategy paid off exponentially when it partnered with a small startup.
Susan Ruediger (08:02):
We were looking for companies who had technology that might have very specific delivery systems to get these drugs into the right places in my body. We partnered with the international convention in 2019 in their one-on-one partnering system. And through their database, we were able to go through and find those companies that were working in this technology or had this technology working in this space. And quickly, we found that one of those companies had a technology that was very relevant to the peripheral nervous system.
Susan Ruediger (08:37):
We spent six months working with this company. We introduced them to patients so they could understand what the patient experience was. We gave them $125,000, and that was in January of 2020. Six months later, they had enough data that they were able to earn a grant from the NIH for $350,000. And then six months later in early 2021, they raised $100 million based on the success of the program in CMT that they had been able to put together and start with funding and expertise from the CMT Research Foundation.
Theresa Brady (09:19):
Susan had the right strategy and her persistence demonstrates how much patient groups can bring to the table for the entire drug development ecosystem.
Susan Ruediger (09:27):
I am really excited about the future for CMT. The interest from pharma, the interest from biotech, it is exploding in part because of the work by the CMT Research Foundation. We've funded 15 projects for CMT in four years, and two of those projects are leading into clinical development. One drug is in phase three trials now, and we have many more that are preparing for phase one and phase two trials. It's a huge opportunity and I feel very hopeful.
Susan Ruediger (10:02):
I think that is the role of the patient advocacy groups is to amass the experts, to amass the science and really know what your gaps are to amass the patients and then to bring funding and then to go out and talk about your disease and make it easy on these companies to get into it. As patients, especially with a progressive disease, we don't have time to waste, we don't have money to waste. Our job is to make it easy for the drug developers, the drug hunters to be attracted to our disease. We don't want to introduce them to a disease and have them spend six months scouring the literature to answer a question that we already know the answer to.
Theresa Brady (10:58):
When we come back from a break, we will speak to a mother who left a tech career to fight full time for her daughter.
Theresa Brady (11:17):
This month on October 27th and 28th, BIO will host the Patient and Health Advocacy Summit. We bring together patient groups, academia, regulators, and the biotech industry to discuss timely policy issues and share best practices. For more information on this conference and others, visit bio.org/events.
Theresa Brady (11:52):
In September of 2017, a group of parents got a Skype call that would change the course of their lives. These parents were connected by the same heartbreaking diagnosis that their child was born with the severe and neurological genetic condition called FOXG1 syndrome. Our next guest was on the call.
Nasha Fitter (12:13):
My name is Nasha Fitter. I am the co-founder and CEO of the FOXG1 Research Foundation.
Theresa Brady (12:20):
Nasha discovered that her daughter had FOXG1 when her daughter was only seven months old.
Nasha Fitter (12:25):
My daughter Amara, she's now six years old, and when she was seven months old, started having seizures. They're coined infantile spasms, and she was having over a hundred of them a day. We were able to get her genetically tested because of that. And immediately on the epilepsy panel came the FOXG1 mutation. So by the time we received the diagnosis, she was nine months old and I was told by various clinicians that I spoke to that, "Look, there's not really anything you can do. She's likely never going to talk or walk or have much movement. She has severe intellectual delay." At that point I was devastated, but I was also doing a lot of research. And luckily, I knew a few people who worked in the biotech industry who opened my eyes to what is coming down the pipe in terms of gene therapies and antisense, oligo nucleotide therapies.
Nasha Fitter (13:18):
And that's all I needed to know that there is a possibility that I could change the trajectory of her life. I found other parents who also believed in that. And that's the impetus for us to start the foundation, to take our children's lives in our own hands, and also to understand more about this gene. We just decided, "Look, we're going to become experts on this gene. We're going to become experts on this syndrome, and we're going to fight to find therapies to relieve their symptoms."
Theresa Brady (13:46):
Nasha says her mission is driven by passion and love.
Nasha Fitter (13:50):
She started this foundation with a group of parents. It's not something I've done on my own. My co-founder, Nicole Johnson, her daughter Josie, is a couple years older than Amara, who's my daughter. We started this to drive research forward and so it truly is an effort of passion and love moving us forward.
Nasha Fitter (14:18):
For me, what gives me the strength to keep going, there's a couple things that in the early days I told myself that I do not want to be a victim of my circumstances. No matter what, I'm going to look at my life positively and be grateful for what I have and take this on as a challenge. So that helped me in the early days really get going. And as things got harder in the process, one of the things that has actually kept me going are the other parents and other children that I've gotten to know because now I feel that I'm not just doing this for my own daughter, but I'm doing this for so many other people.
Nasha Fitter (14:55):
Curing a disease is all about resilience, and you just have to remember that there are going to be really bad days and there are going to be really hard times, but you will get through it.
Theresa Brady (15:06):
Nasha's professional career gave her a skill set that easily transferred to building a successful advocacy group.
Nasha Fitter (15:13):
My career before was really in technology and specifically ed tech. I'd spent 10 years both at Microsoft and then starting my own companies. That entrepreneurial background really helped me because starting a foundation, running a foundation is a very entrepreneurial endeavor. You're tackling a problem that is so enormous, you don't know basically 90% of what you need to do. The beauty of that is you're constantly talking to people to fill the gaps and it's putting all the puzzle pieces together.
Nasha Fitter (15:43):
I think also I knew what I didn't know, so I wasn't coming to it with any preconceived notions. And that's what's important. You don't have to know, you don't have done this before to be able to do it.
Theresa Brady (15:54):
If you think about it, we all have talents that we can bring to a cause that matters to us. Nasha's professional background, combined with her experience as the mother of a FOXG1 patient was instrumental in the organization's efforts to develop a natural history study. Why is that important? A natural history study provides information on how a disease develops, which is essential to finding ways to treat it.
Nasha Fitter (16:20):
One of the challenges we had as we were trying to understand more about this disease and as we were speaking to biopharma was there was just a lack of overall understanding of the natural progression of this disease. The way that these natural history studies are currently performed are an academic center will set up a site, and then you have patients who go and enroll in these sites and every three months or six months, they have to go and answer specific questions.
Nasha Fitter (16:48):
Now, the problem with this is that there's only a few academic sites that get created, and if you have a rare disease, you're not going to get a large population that's able to caring for a severe child, go and travel to these specific sites. So there was a $60 million NIH funded study actually for FOXG1 syndrome. After six years, we have very spotty data. We have very few patients that were even able to be enrolled.
Nasha Fitter (17:17):
So I looked at all this and I just thought, "There's got to be a better way to do this." My background is in tech and data, and in some ways not really knowing a lot about healthcare help me. I just thought, "How can we use tech to solve this problem?" And one thing that when I enrolled my daughter in that NIH funded study, I realized that the questions I was being asked are the same ones I'm answering when I go to her normal checkups with her neurologist every three to six months. So why don't we just collect those medical records of our patients and extract key data points and then create a natural history study?
Nasha Fitter (17:56):
We got our patients on, and it's pretty extraordinary. Within a year, we were able to create a hundred person natural history study for FOXG1. We're going to be publishing it on it very soon. And the amount of data we've collected is over 10 years of data. It's such a rich data set. And that's really critical because now we're looking at creating different types of drugs depending on the mutation that a child has. So it's been quite an experience and we're really proud of that work and the answers that we've gotten from that study.
Theresa Brady (18:29):
And Nasha has some good news to share. Similar to the success of the Ice Bucket Challenge for ALS, patient advocates like Susan and Nasha have been key to achieving much needed advancements in the treatment of rare diseases.
Nasha Fitter (18:51):
Very exciting. We have just announced that our first clinical trial for FOXG1 is happening at NYU. This is for a drug Fintepla created by Zogenix UCB now that was approved for Dravet syndrome and LGS. This is for really the most severe patients who have uncontrollable seizures where current medications are not working. So we've just launched that clinical trial. We have a few children already enrolled and are looking to fill that trial. And that will be our first real drug that is specifically for FOXG1. We're so happy that we have something that we can offer our most severe patients. We're very hopeful and takes time, but we are getting really close.
Theresa Brady (19:42):
I want to thank Susan and Nasha for sharing their personal stories and showing us that patients can be both the inspiration and the impetus for advancing meaningful science.
Theresa Brady (19:59):
This episode was developed by executive producer, Theresa Brady and producers Connor McKoy, Lynne Finnerty, and Rob Gutnikoff. It was engineered and mixed by Jay Goodman. Theme music created by Luke Smith and Sam Brady. Make sure to subscribe, rate and/or review this podcast and follow us on Twitter, Facebook, and LinkedIn @IAmBiotech. And subscribe to GoodDay BIO at bio.org/goodday.