Episode Transcript
[00:00:03] Speaker A: Welcome to Power to the Patients, a LinkedIn live and podcast series hosted by Power, where clinical research leaders across sponsors, sites, CROs, and patient advocacy groups discuss patient centricity in clinical trials. We explore the bottlenecks in today's system.
[00:00:23] Speaker B: Challenge the status quo, and talk about.
[00:00:25] Speaker A: Future opportunities for innovation. Let's dive in.
[00:00:30] Speaker B: Hi, Stephanie.
[00:00:31] Speaker C: Hello. Thank you for having me.
[00:00:33] Speaker B: First of all, thank you for taking the time to speak with us. Really excited to hear about the work you do. Can you kick us off with just maybe a quick introduction, your background, what you do, and then the foundation as well?
[00:00:43] Speaker C: Yeah, sure. Thank you. So, my name is Stephanie Seville. I am the foundation manager for the Pediatric Retinal Retinal Research Foundation. My background, I've spent about 15 years in fundraising and helping nonprofits raise dollars to improve different diseases. I was connected with PRRF by planning their fundraising walk, and that position evolved over several years and growth into now helping more from an organizational standpoint. So the Pediatric Retinal Research Foundation is a really small foundation. We're based out of Detroit, Michigan. However, we serve people internationally, and we focus on seven rare pediatric diseases, all specific to the retina. So our foundation supports, on one side, a lot of research, and then on the other side, a lot of community programming to help people get through their day to day while we are working on finding solutions for treatment and cures and things of that nature.
[00:01:41] Speaker B: Got you. That's really inspiring. And one thing I didn't realize we were having this conversation earlier is just how volunteer driven this foundation is. Can you tell us a little bit more about how that all comes together in the background?
[00:01:53] Speaker C: Yeah. So one of the things I love the most about the organization, it's been around for about 30 years, and it originally started by some really passionate doctors that saw a need and wanted to serve children and adults, actually, who had these rare diseases. It's since evolved many times as many foundations do over the years. And we don't have any full time staff, and we really haven't had any full time staff over the years. There's a handful of contractors, myself included, and we work on marketing and foundation activities and community programming. But by far and large, the whole organization is run through really dedicated and passionate volunteers, a lot of physicians that are involved, parents that are involved, and now some of the children have grown up enough in age that they can give back, too. So we engage a lot of young adults who have these diseases to drive the next level of where the foundation is going to go.
[00:02:49] Speaker B: Yeah. And tell us a little bit more about the history of why the focus on pediatric retinal conditions as a foundation.
[00:02:57] Speaker C: Yeah, so many people may have heard of retinopathy or Prematurity ROP. It's probably the most popular disease that is known within the group of diseases we support. And there are a ton of adults right now walking around that have ROP. And they got that because back when babies were premature and they were put in incubators, right when incubators first came out, the lack of oxygen caused their retinas to not form properly. Well, since technology has advanced drastically with premature baby treatment as well as incubation, that has become less of a problem, and the incident rate has decreased drastically. And so the adults that we're trying to support, quite frankly, there is a greater need in the pediatric side than there is in the adult side because the rate of incidence has changed. And then we're also discovering these other rare diseases. And so we really want to focus on what we can do to help children live a fulfilling life, whether they have loss of vision, no vision, or partial vision, and what can we do to impact their day to day and help the parents navigate what that looks like for their family? So we emphasize specifically on children because we found that's where there's a greater need.
[00:04:15] Speaker B: Understood. Yeah. So you mentioned we've had some progress in this space. Where would you like to see this next wave of progress come from?
[00:04:25] Speaker C: So the big piece that PRRF is focused on is finding out the why. For many families, we know the why for ROP, and we're discovering the why for fever, which is one of the key diseases that we support, but there are many other ones that we service that they don't have an understanding of the disease and where it came from. And so I think the next way for us is to keep pushing on researching the rare diseases so we understand the cause, because as we know in research, once you understand the cause, you can start to figure out how to address it. Are there treatment options? Are there ways to fix it? Are there long term cures and ways to change that outcome? So for us personally, our next wave is to continue on the path that we've gone for the first two diseases and expand that to the other ones that we're serving. There's nothing like being able to understand why this happened to your family.
[00:05:22] Speaker B: Got you. Yeah. And what are the pathways to understanding why? What are you most excited about?
[00:05:28] Speaker C: Yeah. So we're one of the very few organizations in the country, possibly the world, that offers something called a biobank. And the biobank is where we have a central hub. Families can come to one of our clinical partner offices. They can give DNA, that DNA is then put into the biobank. The biobank is then researched.
They run a sequence of a number of families at one time, and then they run a profile and they look at all of their DNA and all of their genetic sequencing, and they can give that back to the family and say, okay, Mom, dad, aunt, uncle, Grandma, grandpa, sister, brother. This is the genetic makeup of everyone. And this is where we found some disparities. And so they can then give them a full profile to talk with their clinician to figure out the cause. And if we can replicate that process where we collect DNA from all of your immediate family members and figure out what is different between the individual who has the disease versus a lot of the other family members, we can then start to break down where the change in the DNA or genes or sequencing occurred. Because many of the diseases that we support are inherited or acquired, and a lot of it is through your parents.
What they carry, whether they know or not. For us, that's how it gets started. And then once we have enough samples, we can then go down different paths within the research lab. And we have a research lab supported to exclusively work on pediatric rare retinal diseases that the foundation fundraised supported and now lives at Oakland University in Rochester, Michigan. So we're dedicated to doing that on an ongoing basis through the lab.
[00:07:16] Speaker B: You make these biobanks and this process sound so easy, but clearly it's not easy. So maybe tell us a little bit more about what's hard about this.
[00:07:24] Speaker C: Yeah, I mean, everything in research is hard, quite frankly. There's always obstacles and things that you're going up against and we can dive into probably a bunch of different ways that it's hard. The first, most simplistic thing for people, understand is funding. There's not an endless supply of funding that can help pay for executing all of the different research that we want to do. So from a very simplistic level, there's always that there's never enough time and resources to dive into rare diseases specifically because the outcome isn't necessarily going to benefit a pharmaceutical company from serving 8 million people. The service is a lot smaller. But also your body is so complex and your DNA and your genes have so much information. And so when we put some of that through our biobank and start looking at breaking it down through the sequencer, we have to target where some of these things are happening. And that's a lot of data to comb through to slowly peel away the onion layers and find out where the breakdown is. And that can take time. And we don't obviously sequence our entire body. We're not going to look for everything. We're going to zero in on the areas that make sense. But even that is really complex. And so having the opportunity to really dive into where this is occurring, that's challenge number one. And then once you find that, you have to figure out, okay, in this particular case with fever, the Norogen protein wasn't being produced properly. What do you do about that? And so there's a whole different line of research that you have to go down to figure out how Norm works in the body. And what functions does it offer? How does it impact other areas of your body? It's not just to your retina, just because that's one of the things that it helps form. It has implications for a bunch of other areas as well. And so it's really understanding and discovering the basis of the information before you can figure out what to do about it. And that takes time.
[00:09:28] Speaker B: Yeah.
[00:09:29] Speaker C: We supported a couple of students in the pediatric retinal research lab. They were learning how to do research and so they were over the summer and they were running one of the biosequencing research components and it kept coming back wrong and they couldn't figure out why. And why isn't this giving us the results we expected. And so they were figuring it out. Come to find out the test tubes that they used were plastic and the plastic was seeping into the sample which was then giving them wrong results. And so they spent a whole period of time figuring out what was wrong. Come to find out they had to change the type of test tubes they use to a different plastic that wouldn't contaminate their sample. And so that's just a really little snippet of some of the challenges that go into research. That is really hard to just figure out that it's the actual product, you are using it and nothing to do with the sample. So small snapshot into something interesting that I learned about the lab.
[00:10:25] Speaker B: Yeah, absolutely. You mentioned the role of the pharma companies or lack thereof, maybe in some of these conditions. Maybe speak a little bit more towards how you do work with pharma sponsors and the capacity of a patient advocacy group. How does that come together from your perspective?
[00:10:42] Speaker C: So we are just now diving into the development of a new drug for the first time ever. And when I say we, I use it loosely because the foundation is not in the space of creating drugs. We have provided seed money and support for a biotech company that is doing the actual commercialization and development. But our pharmaceutical companies, many times they're trying to service the most amount of people possible. They want to treat individuals where they can have big impact in big numbers. And so working with rare diseases of any type is a little more challenging for them to justify that investment, if you will. And so our organization that we partner with is called Keragen Therapeutics. They are going out and finding different investors and grants through the NIH and other organizations to fund the commercialization process of bringing the drug to the market. We do have support from different pharmaceuticals in that they want to see us be successful with this effort too. So they may sponsor different things that the foundation is doing. They may support connecting us with different individuals in the industry and offering feedback and advice through that process. But really Keragen is the one leading that because the big pharmas can't justify that type of investment into all the rare diseases that exist. So it's an interesting dichotomy that we're kind of avoid.
[00:12:12] Speaker B: Take us into a little bit of that history a little bit more. It's interesting that you decided to go seed fund a biotech company. How did that come to be?
[00:12:20] Speaker C: Yeah, so we're really fortunate to have some of the industry, the world's industry, experts in retinal diseases, serving on our board of directors. And so people from all over the world will come see some of these doctors. Our founder who recently passed away, Dr. Michael Tracy, he was very well known in this community throughout the world. And so they are the ones who really launched and initiated the idea and the need that we have to find a way to support these families through therapy. And no one else out there is jumping at the opportunity to do it. And Dr. Tracy specifically was such a visionary and such a big picture thinker that he said, well, let's do it ourselves. He was one of the key people that launched the capital campaign to build the lab. And his legacy has been carried on through some of the other doctors. And so they said, hey, we see a need. We know the foundation isn't in a position to execute this as a foundation, so why don't we partner? The foundation can help support and launch the initiative that can bring this to market. And so they started a separate biotech company based on that idea. So it was literally a group of doctors talking and saying, we have to do something. They came up with the idea and they did it. So it may be a little untraditional than how a lot of biotech companies start, but it's really inspiring because they just saw a need and said, we have to fix it.
[00:13:48] Speaker B: Yeah, absolutely. And there's this very specific, I think, world of rare and this question of, okay, how do we get pharma's attention and get the backing to kind of support some of these rare conditions? From the perspective of a rare disease advocate, how would you like to see pharma engage with you more just as a voice of the patient?
[00:14:08] Speaker C: I mean, in a perfect world, they would partner with the smaller biotech companies. And so if they're not willing or I shouldn't say not willing, if they're not able to take on some of these projects, it'd be really nice to see them step up to the table and say, hey, let us lend to you our technology or our experience as we've worked with other major drug development and really mentor, if you will, some of these smaller, rare disease initiatives. Because the process traditional research is in an academic institution and taking something from an academic institution and making it translational research so it actually reaches the patient. That process in and of itself is complex. But then taking that from the lab and actually making it so that it's safe for people to consume. That's not something that happens every day between academic institutions and biotech companies from start to finish, seeing the full continuum. So it'd be great if we can get some support of biotech or pharmaceutical companies to say, this is how we do it. Help lessen the learning curve. Help mentor and support those that are trying to break through in this new space and make it go that much faster because they have less to learn the hard way and on their own and through trial and error. So that's how I would love to see in the big picture support level.
[00:15:29] Speaker B: Absolutely. There's kind of these mentorship infrastructure platform support for the folks who are deciding to embark on these research journeys. What about from the other perspective, from the patient side? So the podcast is called Power to the Patients. It's about patient centricity. I'm kind of curious. In the rare space, what does that mean to you?
[00:15:50] Speaker C: Honestly? People have to be their own advocate and be passionate and willing to step out and share their story. That can be really scary to share your story with greater populations, whether it's on the legislative side or just as a coalition of other parents. But from a patient perspective, it's really crucial to find your voice and let folks know the impact the disease is having on your life and how critical that is. Whether you're one patient or 1 million patients, that's still a massive impact on your life. And so for me, telling stories and seeing patients really let people know the impact that the disease is having on their life is how we're going to see change. People like to help people. And so when you can get the attention of major organizations or legislative branches or funding opportunities and investors that are willing to support these rare diseases, I think the most important thing is you can speak your journey and speak your voice and tell your story.
[00:16:56] Speaker B: And then at the intersection of these two things, what does patient centric research look like to you?
[00:17:02] Speaker C: Yeah, so we have something called the Family Advisory Committee, and they drive everything we do as a foundation. And for us, that's patient centric. So we are constantly asking parents and young adults and adults that were with us for many years through the process, what's important to you? What do you want to see? How can we help impact your life? And obviously, a cure is the number one answer, but knowing that that is long term, 20 and 30 years down the road, the other conversation that we have is what can we impact today? What can we do to make your lives a little easier? And that could be assistive devices that could be different technology that comes out to make living your day to day easier. And there's a research component to that too. There's people in technology industries doing tons of research to try to figure out tools to make people's lives easier who are living with disabilities. And so for us, it's really listening to the patients and the people that are living with the diseases to say, not only are we trying to find out the why and the cause and the cure for that, but what else can we be doing now? What can we help you with today to help navigate your life? And so for us, that's very patient centered and patient focused.
[00:18:20] Speaker B: Yeah, absolutely. I feel like I hear a lot from the pharmacy of the world, oh, we got to engage the patients. We got to engage the patients. How often does that happen for you? Maybe that's too spicy a question. We'll see where this goes.
[00:18:34] Speaker C: Well, I mean, at the end of the day, when it's rare diseases, it's hard to connect with the patients. You're not going to go. So, for example, I just saw a major pharma company show up to an Art fair that I was at, and they had a giant RV, and they were engaging people to come inside and get tested for what they were supporting. And people walked out and they engaged the public. They engaged patients, they engaged people. You're not going to have that same opportunity to take the RV to the art fair and find all the rare disease patients. They're rare diseases. And so I think the biggest thing is figuring out how to meet them, where they are, and how to connect with rare disease patients. And that starts with connecting with the organizations that support rare disease patients. I don't have pharmas necessarily knocking down my door with phone calls and emails saying, how do we talk to your patients and how do we engage them? But that, to me, if I were on an opposite position, would be a good place to start because you can't engage them if you don't know where they are and you don't know how to get in touch with them, you're not going to be able to just talk to them. HIPAA prevents a lot of opportunities in that space, and so where are you going to find them? That's my biggest question. Yeah, I think we're receptive to having those conversations. We need the folks that are going to make that movement happen and open some doors.
[00:19:56] Speaker B: Yeah. What advice would you have for anyone doing development in a rare condition that is trying to do better patient engagement? What advice would you have to those folks?
[00:20:04] Speaker C: I mean, there's a lot of different coalitions that exist. The National Organization for Rare Diseases. There's a lot of different groups that are pulling together rare disease communities. First and foremost, give them a call. I mean, they do legislative work. They do patient work, they do organization work. For me, the very first thing I would start doing is building those relationships in the rare disease community. So you can listen and hear what's needed and then figure out a way to be mutually beneficial. I think legislative piece of it is huge. If I'm a pharmaceutical and I'm working on the development, making sure there's opportunities that exist to execute is a really big piece. The government has a number of different rare disease designations as they're doing research that help accelerate the development of some of these drugs. And I think continuing to advocate to make those things accessible is more powerful with a pharma backed team. So I think they need to really reach out and find out where those connections live and what needs to change to make progress go faster.
[00:21:09] Speaker B: Yeah, absolutely. Okay, so I'm a drug development company. I'm starting to do work in your space, and I'm coming to you saying, Stephanie, I've got this candidate designing this clinical trial. Would love to get your help spreading the word. What would you need to see from me in terms of the way the trial is designed, the way that we've thought about the research and all this kind of stuff for you to be excited to tell all of your community about it?
[00:21:34] Speaker C: Yeah, and we've had different groups reach out that offer clinical trials on their website to source them and things like that. And first and foremost, where is the information coming from? We want to validate the legitimacy of what's being offered. We definitely don't want to turn patients onto something that turns out to not be professional and backed by organizations that have some credibility. But also it needs to be accessible. And I think that's one thing. When we talk about De and I in our community all the time right now, we don't always remember to talk about the inclusivity side of it. And that has to be a key component. We have individuals that at least our disease is supporting that have disabilities. They can't necessarily all jump on a plane and go to wherever this clinical trial is happening, or they can't get in a car all the time and make it there. And so a big piece of that is how are the people we're serving going to even get to the trial to start with? What is the homework and background that has been done? Where are all of the articles on this work published that we can then share with families? Our families are fierce in doing their own research.
They know way more than I know about their disease and everything that's happening. And so we need to be able to serve them with the information that they can then research and decide, is this a good fit for my family? Is this something we would be excited to participate in? What are the downsides and the possible risks involved? So for me, it's inclusivity and providing the information for them to continue to do their own research.
[00:23:16] Speaker B: Yeah, absolutely. I think the access piece is so big, we're hearing about it so much, and it's interesting to hear. We hold the hypothesis that patients are actually more informed and more engaged than they've ever been in today's day and age. People are very comfortable going onto the Internet and going deep right. And looking at the research. And it sounds like what you're seeing from patients is that in families is that they want to see the science. They want to get down into the weeds and actually read the papers. They're looking for that stuff.
[00:23:45] Speaker C: Yeah. They understand more medical terminology and complexities than I can ever even imagine. And some of the families have a conversation with them and they'll say, oh, I just read this. Is this true? I just saw this in an article. What do you guys know about that? And they'll ask our doctors things that came out weeks ago. And fortunately, the doctors that we have involved are very well versed and they stay on top of stuff. But these families know stuff immediately and they understand it at a complex level. And I think that's amazing and I would want to do the same if I was in that situation, advocating for my child. But finding that information unless you know where to go can certainly be a challenge because there's also a lot of bad information on the Internet, too.
[00:24:27] Speaker B: Yeah, totally.
[00:24:28] Speaker C: You know, so having a source that is trusted and validated is.
[00:24:35] Speaker B: Stephanie, I want to close here. I'm going to ask you, if you had a magic wand and you could change anything about the way that research is done in your space, how would you change it?
[00:24:43] Speaker C: That's a really interesting question. Honestly, I think I would say just having an influx of researchers and resources available to not have researchers have to focus on where their next funding opportunity is going to come from throughout the stage, but just be able to focus on executing their work as efficiently as possible with the greatest number of people is possible.
We spend a lot of time on the business side, and I think that is understandable, but it can also slow down the process of worrying about where the next level of funding is going to come from and writing the grants and writing the reports and all of that. Administrative side, it bogs down the process a little bit. So I would love to see that it's not as much of as an issue.
[00:25:31] Speaker B: Yeah, makes sense. All the stopping and starting that comes with looking for funding and wondering where the next set of funding is going to come from. Well, thanks again for taking the time to speak with us this morning. Really appreciate it. Where can people find you if they want to get in touch?
[00:25:49] Speaker C: Yeah. So anyone wants to learn more, please go out to Prrf.org or pediatricrrf.org. You'll find all our contact info, more about the diseases and more about the research we're doing there. And then of course. My email is on the site and reach out anytime. I'd love to chat.
[00:26:06] Speaker B: Perfect. Well, hey, thanks again for taking the time.
[00:26:10] Speaker A: Thank you for tuning in. If you haven't already, please follow Power on LinkedIn, sign up for our live events and engage with us in the conversation.
[00:26:19] Speaker B: We hope to have you join us.
[00:26:20] Speaker A: Next time on Power To.
