The Roadmap to Rare
This is the Roadmap to Rare. Hosted by OCNDS parent Eric Finn, this podcast explores the reality of the rare-disease journey—sharing hope through real stories, real challenges, and research. This is our rare disease roadmap.
Every rare disease journey is different, but no family should have to navigate it alone.
On Roadmap to Rare, Eric sits down with parents, advocates, clinicians, researchers, and leaders in the rare disease community to talk about what the path really looks like—from diagnosis to advocacy, research breakthroughs, and everything in between.
Together, these conversations shine a light on the experiences that unite the rare disease community: resilience, determination, and hope for the future.
The Roadmap to Rare
Episode 8: Five Practical Ways for Families to Prepare for Clinical Trials ft. Dr. Gabrielle Rushing
Use Left/Right to seek, Home/End to jump to start or end. Hold shift to jump forward or backward.
In Episode 8 of Roadmap to Rare, host Eric Finn is joined by Dr. Gabrielle Rushing, Chief Scientific Officer of the CSNK2A1 Foundation, to talk about one of the biggest questions that rare disease families may ask: will there ever be a treatment for my child? Dr. Rushing explains what “clinical trial readiness” means and explains drug repurposing, gene therapy, and how clinical trials work. She also describes the research the CSNK2A1 Foundation is supporting in areas like sleep, speech, language, and motor symptoms. Together, Eric and Dr. Rushing discuss five practical steps that families can take now to help lay the groundwork for future OCNDS research and emphasize that small actions across the community add up.
Subscribe so you can stay updated for new episodes! New episodes every two weeks.
Your ideas help shape the conversations that matter most to the rare disease community. Feel free to submit questions and topics of interest to us: https://www.csnk2a1foundation.org/roadmap-to-rare-podcast
Stay Connected:
Visit our website: https://www.csnk2a1foundation.org/
Follow us on Instagram: @csnk2a1_foundation
Follow us on Facebook: CSNK2A1 Foundation
Follow us on LinkedIn: CSNK2A1 Foundation
Links & Resources
CSNK2A1 Foundation informational videos: https://www.csnk2a1foundation.org/informational-videos
How to read your genetics lab report video: https://www.youtube.com/watch?v=RR1FwdI-WZQ
Family research opportunities: https://www.csnk2a1foundation.org/family-research-opportunities
Simons Searchlight: https://www.csnk2a1foundation.org/natural-history-study
Citizen Health: https://www.csnk2a1foundation.org/citizen-health
OCNDS research explained: https://www.csnk2a1foundation.org/research-explained
Drug repurposing (Dr. Clement Chow); episode with Dr. Chow coming soon!: https://www.youtube.com/watch?v=fAUSglQ_XBc
Hello, everybody, and thank you for joining this episode of Roadmap to Rare, our podcast where we discuss the rare disease journey through real stories, real challenges, and research. As always, I'm your host, Eric Finn, and today we're going to be talking about one of the biggest questions that rare disease families might have. Will there ever be a treatment for my child? But when families hear those words like clinical trial, it can be a mixed bag of emotions like some hope, excitement, a little confusion, and sometimes even some fear. But clinical trials don't just suddenly appear. There's years of groundwork that happened first, and families are an important part of helping future treatments become possible. So today we wanted to talk about what families can do now to help prepare, because small actions across the community can make a real difference over time. To talk about five practical steps that families can do, I'm joined by Dr. Gabrielle Rushing, Chief Scientific Officer for the CSNK2A1 Foundation. Gabrielle, thank you for being here. I know some listeners may know you already, but could you briefly introduce yourself?
SpeakerSure, Eric. Thanks for having me. I'm Dr. Gabrielle Rushing. Like Eric said, I am the Chief Scientific Officer at the CSNK2A1 Foundation. I've been in this role for just about three years, and before this, I was working on a different rare neurodevelopmental disorder, both in my job and my PhD at Vanderbilt. I'm really glad we are talking about this topic today because sometimes the phrase clinical trial readiness can sound quite technical or maybe intimidating to people. And really what we mean by the term clinical trial readiness is helping to build the foundation that researchers and families both need before treatment can actually be tested in people.
Speaker 1That's good to know. Which kind of leads me to my next point. So I think a question that families might have is you know, why are we talking about this now? Are we moving towards treatments for OCNDS?
SpeakerYes, absolutely. We are actively supporting many different research projects in several areas that could eventually lead to future clinical trials. That includes studies on things focused like sleep, speech and language, as well as motor symptoms. And some areas of research we are supporting include drug repurposing, assessing feasibility for our community to pursue gene therapy, as well as improving symptom management and care guidelines.
Speaker 1Hmm. Well, it's a lot of great things coming together at once, which is good. Um, one thing you mentioned was drug repurposing. Can you kind of explain that in lay people language?
SpeakerYes, of course. Um, so how I always think about this is drug repurposing means looking at medicines or drugs that already exist. Um they can maybe even be over the counter, like on your pharmacy shelf, um, and asking, could this medication also help with OCNDS symptoms? Uh, one reason that researchers get excited about this specific approach is that some of the medicines we already have have already developed safety information from other conditions. And this makes the process of getting access to individuals who may benefit move much quicker than, let's say, a new drug being made. Um, also, if listeners want to hear more about some of our OCNDS drug repurposing efforts, I do encourage them to listen to the episode with Dr. Clement Chow, and he talks about his lab's efforts using a fruit fly model of OCNDS.
Speaker 1Yeah, I remember talking with him about it. It's such an interesting thing. I know with ADHD, uh, my psychologist was like, well, maybe I'll try this. I'm like, Well, what is it? And he goes, Well, it's for antidepressant. I was like, Oh, oh, that can that can help with the symptoms. He goes, Yeah, it didn't help me, but it actually helped one of my buddies, which is awesome because I know it costs a lot of money to just like, hey, let's create a new pill.
SpeakerAbsolutely.
Speaker 1Um it sounds more like not a cure for OCNDS, but help with those uh symptoms or the characteristics and manage or mitigate those symptoms that that kids might have to help them just get through and move on with their regular life, which is awesome. Um another thing that I know I've heard a lot about and kind of looked through, and um you've mentioned before about uh gene therapy. Can you tell us more about what that is, like the CRISPR, or is that the thing?
SpeakerThat's one technology, and um gene therapy is moving very quickly across rare disease. I'm sure you've seen some headlines coming up in the news. Um, how I like to explain it is gene therapy is a type of treatment that aims to address a condition at the genetic level. Um, so genes act like instructions for the cells in our body, and when a gene does not work as expected, such as with CSNK2A1 gene leading to OC N DS, the body may not make a really crucial protein correctly. So instead of with drug repurposing where we're focused sort of on symptom management, gene therapy really tries to address the condition where it's being caused. And so different types of gene therapy exist. They can add a working copy of the gene, they might replace faulty or bad instructions that are happening, or it might change how a gene functions in the day-to-day. The treatment itself is often delivered using something called a modified virus, and it acts as a little carrier and it brings the genetic material into the cells. So thinking like a male carrier putting like a male in the mailbox. And sometimes they're designed as one-time treatments, um, but they are not cures for every condition and may not be able to reverse symptoms that might be already present in a human. And so before testing anything like this in people, researchers have to do a lot of work to understand what cells in the body to target, what kind of dose they should give, um, if that treatment might reach the right tissues in the body, and then of course, whether it's safe for that person to take. Um, and so we have to do a lot of research up front to understand the disease really well. Um, and before we move any type of potential therapy into an actual clinical trial, we also need to understand what changes would matter most to families to see reflected in their in their children.
Speaker 1It was interesting. I was just uh as I was listening to you, like when I hear like, oh, we got the gene therapy and it's gonna hit all the genes in your body, but you would kind of mention more like, oh, the the tissues or this part. Like, I I imagine it going like, oh, my whole body's gonna get, or you know, like my son's whole body will get this.
unknownYeah.
SpeakerYeah, that's a good point, Eric. Um, because some gene therapies we have to be um extra careful about. For example, with OCNDS, we have a lot of the neurological um symptoms, and that's a consideration that's really important when designing a gene therapy because we have to go past something called the blood-brain barrier, um, which is a great feature normally, because it prevents things from going into the brain that shouldn't. Uh, however, if we want to send a treatment there, right, we have to be able to sort of bypass that. Um, so the initial gene therapy studies you might be seeing um in the news um, for example, target an easier organ to reach, like the liver.
Speaker 1Oh, sure. Yeah. That makes sense. Huh. Yeah. Okay. Very cool. Um so I know uh we've got a few roads, gone down a few roads here, but uh something they they have in common is that before they can become treatment for a disorder, they have to go through the clinical trials, like we were kind of alluded at the beginning of the episode. Um, can you explain what a clinical trial is and why it's important?
SpeakerSure. Um, clinical trials are research studies that can test whether a new treatment is safe and then whether it might work in people. So if it's um efficacious. So before a treatment actually reaches the clinical trial stage, it usually goes through years of lab testing as well as different models of whatever disease is being studied. Um, and these trials typically happen in phases. The earlier ones tend to focus mainly on safety and finding the right dose, and that could vary on many factors. So age, the sex of the person, um, other medications that they're on. And then the later studies look more closely at whether the treatment actually improves symptoms or daily life, whatever is mattering to those families. And potentially, if there are other treatment options for a disease, they might compare this, you know, new drug or newly found drug to other options that are already available for those families. Um, they're really important because they provide reliable evidence to researchers and doctors, and without them, we can't really know whether a treatment truly helps, may have unexpected risks, or maybe work differently across patients that have the same disease. Importantly, they're also carefully reviewed and monitored to make sure people that choose to participate are protected. And for rare conditions like OCNDS, clinical trials really help the general field learn more and it can help us determine next steps to maybe develop other future treatments. And so this is where families really come in because so much of what makes a clinical trial possible happens before it even really opens.
Speaker 1We're kind of looking more, and we want to educate our community and the community in general on the uh I and I believe you guys kind of came up with the five practical ways that families can help with preparation for clinical trials and kind of emphasize the listeners they're they're not huge, right? They're they're not impossible tasks. They're small things that can add up across the community. And I know step one kind of sounds simple. Stay connected with the patient advocacy organization. Why is that important?
SpeakerYeah, that's a great question, Eric. Um the communication matters enormously in rare disease since so few people comparatively to larger disorders are affected. And so when research opportunities are available, families need trusted places to get accurate information. And then on the flip side, researchers also really need to understand the community that they're hoping to help. So for OCNDS families specifically, staying connected with us at the CSNK2A1 Foundation helps us better understand who's in the community, what the families are experiencing, as well as what support or research priorities matter most. You know, for example, um, some of our families have seizures, but that's not really the top reported most impactful symptom that they want to be focusing on. So even though it's an easy one, because you can, you know, count how many happen per day in theory, depending on the seizure type, it's not really the priority for families. So staying connected really helps us stay up to date on that and monitor any changes over time, especially as children age and grow. Um, and as you mentioned, it can be very simple to stay connected. Um, things like reading newsletters that we send out, following us on social media, obviously listening to this new podcast. Um we have some webinars on our website, you know, dating back to when the foundation first started that have some really useful research updates. Um, attending any conferences or family meetings that we hold if it's possible for a family to attend. Um, and I also do just want to emphasize families, um, you're already helping more than you realize. So every time you, you know, stay engaged, ask questions, or participate in the community, it helps us strengthen our overall research ecosystem around OCNDS.
Speaker 1Sure, and better understand everything that's working there. So when you say the patient advocacy organization, you're talking kind of like that, like we have the foundation. So even if some another family has a child with a different, maybe rare disease, whatever organization that you found that is the head, not really the medical side, but more just those people that have been identified with this, stay with them and just help them say, know you're there, what are your your big concerns per se? Now, step two, uh, this one gets a little bit more, I feel like, and depends on on your maybe background or things you find as a as a parent that you find interesting, but is knowing your child's genetic report. I know that was one of the things when we first got it. It was one of those like, well, here's like a 12-page, 15-page document. You could read it all the way through if you want. I mean, it can feel overwhelming in full long terms that you're like, ooh, I'm gonna underline that. I'm gonna phonetically sound it out so I got it, um, that we might understand after look up. Uh, what your families know about that report and why does it matter?
SpeakerYeah, um, and just to yeah, specify, so families do not need to become genetics experts. Um, I know it can be quite intimidating to first receive that report with that jumble of letters and numbers and explanations. Um, but really what matters most is just having that report readily available to the family. So keeping a copy and storing it somewhere safe, um, as well as being able to share it easily with your child's doctors over time. Uh, we do also have a resource on our website about how to read the genetic report so that families can help or better understand uh their report. Um, and what's actually in the report that's important is it identifies the specific change in the DNA, which we call a variant in the CSNK2A1 gene itself. Um not everyone with OCNDS has that same change, and researchers are still learning whether different changes might respond differently to future treatments. And so having that original report can help confirm if a family might be eligible for research studies, as well as make sure families have all the information they need if and when a new opportunity arises. Um, and families should never be afraid to ask for help if they do not understand what a report means.
Speaker 1Yeah, I can imagine. It's one of those like, oh, um, I need all the it was funny going to our the genetic person up in Montana and Miranda's already got all the files. I know all the stuff you're giving me. So I just need to know what it means. Yep. It's taken six years to kind of finally get, oh, okay, I've got a little bit of a I got a better handle on it. I've scanned it through uh like notes and say there's a PDF and I have it in my phone if there's ever a case to like, oh hey, we're here and when someone needs to see it. So I usually usually my phone's with me everywhere.
SpeakerSo it's good to have it like readily accessible like that. Yeah.
Speaker 1So then step three is participating in natural history studies and data platforms. Why do they matter? And then what do researchers kind of look for in the data?
SpeakerYeah, so a natural history study, um, in simple terms, it follows people that have the same condition over time to understand what the condition looks like and how it may change with age. And so researchers may collect information like medical records, surveys filled out by either the patient themselves or their caregivers, test results, um, and then any other information directly from families to inform that type of study. And so for OCNDS, researchers really want to know which symptoms are the most common, what challenges are affecting daily life the most, and if certain features might improve, stay stable, or become more noticeable over time. And it matters because before researchers and doctors can really test a treatment, we need to know how we could tell whether it's actually helping. So some of the things we might look at in OCNDS might be communication, so that speech and language aspect, sleep, anxiety, behavior, mobility, and so forth. Um, researchers call these outcome measures, so we can measure the difference over time, but families can think of them more simply as how would I know as a caregiver if a treatment is actually making a meaningful difference for my child? Um, and so we do have data platforms that uh conduct these studies, um, being like Simon Searchlight as well as Citizen Health, and they each gather and organize information from many families. And for OCNDS, since it is ultra rare, every contribution truly helps us see patterns that would really be difficult to identify from only a few individuals.
Speaker 1Sure. I know Dr. Chow kind of talked about it, and I and what I do with my families is um when you're if if you're asked to document or hey, just just pay attention to these few things, um kill 'em, kill them with the narrative. Like I mean, like, do you uh what small things did you see? Or, you know, like I'll ask my families like a leading question, like, well, like how did you see a change after this? Oh yeah, yeah, yeah. No, we did see a change. And so those even the smallest details can give big insights into what's going on. You might think it's small, like I know we had a physical therapist that would come out and see Ronan every month, and it was like once a month, because he had other other things they were working on, and like, oh my gosh, he's doing this or he's doing that, like, oh yeah. I guess he wasn't doing that when you were here last. Yeah. I mean, we see him every day, right? So it's like, yeah, yeah, he's he's there, but they're like, oh my gosh. Um but it and it definitely helps, even the little things can help on that data collection. Um and then step four is participating in research when it feels feasible for your family. And you know, research doesn't always mean clinical trials per se. Uh what kind of opportunities can families take part in?
SpeakerYeah, that's a great point, Eric. Um, so most of the research does happen long before a clinical trial comes up. Um, some of the examples of research that families could participate in recently or currently are surveys about their child's symptoms. We do have a speech and language study going on virtually, um, collecting medical records via citizen health or biosample collections. And what I mean by the word biosample is just something from the body like blood, a nasal swab, um, saliva, so spit. Um, and sometimes researchers can use these samples collected from people with a disorder to better understand it or look for markers that might help us. Um, and research progress in rare disease rarely comes from one giant breakthrough overnight. It usually comes from many families contributing those small pieces over time, like you mentioned. And then those pieces help us researchers build better tools, ask more and better questions, and then move that research forward towards a trial. Um, I'm not sure if you've uh had experience participating in any of the research opportunities, um, but we have them listed on our website and we're happy to share them with families.
Speaker 1Yeah, we've we've done a couple and they're very it's it's a very interesting what they're asking of. And I know they're they're coming from like the scientific data side, like, well, if we can if we could measure their gait or if we could see this. I'm like, I can't keep socks on them. So I try and keep an electrode on them for 72 hours without him trying to touch it or take it off and leave it in the same spot. I can't guarantee it's like and this is my own side of it. Did you really think about it like a two or three-year-old? I mean, yes, yes, I understand it would be great to get that data. Yeah, but sometimes, yeah. It isn't always the best fit. Like, okay, maybe there's a different way, but I get it. Like, you have to keep it the same for everybody, so you can see the measurable, you know, if it's the same, if you're doing the same for everybody, you can see the differences. But if you're if you're changing it for some, it it makes the data skew.
SpeakerUh but you do make a good point, Eric. I do want to just acknowledge that for a second. Um, and you know, learnings from that, right? Mistakes so forth, or maybe, hey, this didn't work exactly how we expected. That does inform, you know, next steps or potentially modifications to a study that could help us better collect in the future.
Speaker 1And then of course, step five is just uh keep learning and stay informed, um, which can be hard, right? We don't want to I I speak for myself, not the community, but you know, reading a white paper white page of like, oh, I like that you found something. Is it good? Is it bad? Um sometimes and sometimes it moves slowly, right? You have to make sure you have everything. You want to peer review it before you publish to the to the general public, but why is it why do you feel like it's important to keep learning and staying informed?
SpeakerYeah, absolutely. And it's you know, it is completely understandable to feel frustrated uh when research does move slowly, um, or if it's hard to understand once it actually does come out. Um, that progress often happens in small steps, and many of those steps are just not visible to families right away because it's happening on the back end. Um, but staying informed matters because the field can change. So, like new studies might open, eligibility requirements might change, or researchers may find that they need more information from families when they're in the middle of a study. So knowing where to look for those updates can make those moments really much easier to navigate. Um, and families don't need to understand every paper or scientific term. The goal is really just to learn enough to be able to ask questions, talk with your medical team, and know enough so that you feel informed enough to make those choices. Um and there are many ways to stay engaged, you know, that we've mentioned here, and families can choose those options that feel most useful and manageable to them. Um, and you did mention, you know, it's hard reading some of those papers that come out when they first come out. Uh so we do try to. Yeah, so the abstract at the beginning is really just like an overall summary hitting those key points of what they found. Um, and so what we try to do is we do something called a research explained on our website. When a new paper about OCMDS comes out, we try to write a more um lay public friendly summary, breaking it down into easier to understand terms. And so I definitely encourage the community to look up um that page on our website as well.
Speaker 1Perfect. I was just gonna ask, like, where are some good places for families to look? And obviously, going to the website first is a great one. I feel like a lot's being shared on the Facebook pages too.
SpeakerThat is true.
Speaker 1I think I feel like social media's really helped, you know, push, not push, but you know, like to hey, this is easy enough to get out to everybody. Maybe everyone can see it, where not everybody checks the website every day. But normally there's push push notifications that come through that as we're sharing them to the the public pages, um it can help at least get the word out, like, oh hey, there's something. Is it does it pertain to my child? No, but it's neat that that's going on, you know. Like, yeah, I can see that that's supposed to be for somebody else, but okay, good. And it keeps kind of keep thinking in our mind, like, oh, at least myself, like, well, what what would what type of trials would help with our son and and kind of what he's going through at this time? Um, I'll be really interested to see how that uh speech and language study kind of comes out.
SpeakerSame. I'm very, very excited. And people learn in different ways, right, Eric. So your point about social media is is well taken spot on. Um, we've been trying to do, you know, written summaries, like I mentioned on the website, but also sharing on social media. We've been trying out some reels, uh trying out some virtual webinars with our researchers so that people can stay informed in the way that like most makes sense to them.
Speaker 1Sure. Yeah, and like I said, I I don't really check the website all the time. So those kind of things, like, oh, it's nice to have. Um then being and I know you guys are really pushing, which is awesome. Um, not that it 100% pertains to me, but you guys are really pushing to have almost all, almost all of our written or anything they can listen to, um, translated to different all the different languages, specifically those that we know there are families that are affected by OCNDS, which I think is a a a huge push that any organization should really push for is you know, yes, we we want to know, and we're a small community to start with, so if it's only published in English, then it's like, well, we've got a little bit, but if we can Yeah, even smaller than that, but if we can get it out to everybody, then everyone's well informed. Thank you, Gabrielle, for kind of walking us through those five steps. Um before we kind of wrap up, uh, what do you most want families to remember specifically from this conversation?
SpeakerUh yeah, thank you. Um, I would reiterate that small actions do matter. Um, seriously, simple things like completing a survey, signing up for a study, staying connected, learning more about OCNDS from our website resources. Um, you know, one family doing one thing might not seem huge, but hundreds of families contributing small pieces over time really does create momentum. And then that momentum helps the foundation, you know, build, fund the studies that might enable future treatments. Um, and again, clinical trials are not built overnight, they're really built step by step through research, collaboration, and the community involved. So that's what I would uh leave them with to them.
Speaker 1Yeah. I know you kind of mentioned about like the little things and those just taking part in those little things like uh a survey or this, um, and then the you said just a hundred. But if you think about it, I mean, and I know you're the scientific person, but if you had 25% of your base that you were looking for, that's all that's a huge percentage.
SpeakerAbsolutely whatever you're looking at.
Speaker 1So, I mean, yeah, only a hundred, but that's that's a quarter of our population that are participating in. That's a huge portion in in trial terms, I feel like.
SpeakerAbsolutely, and that's something we have to frame right correctly to be like, hey, you know, it might not sound like a big number to these companies or to outsiders, but if you look at the ratio of actually who we have diagnosed, it's quite quite significant.
Speaker 1So thank you so much for joining us today, Gabrielle. Um Thank you. Thank you, everyone that's listening. Uh, your participation and advocacy and willingness to stay engaged are helping build this future of OCNDS research. And don't forget to like, comment, subscribe, and listen wherever you listen to podcasts, new episodes every two weeks, and the links to everything we've mentioned in the show uh will be in the show notes, and we'll see you next time on Roadmap to Rare.
