Why the MIND Study Matters: Building Clinical Trial Readiness for MED13L with Abigail Svedeen, MS, CGC

Why the MIND Study Matters: Building Clinical Trial Readiness for MED13L

In this powerful and informative episode of Voices of MED13L, Vanessa sits down with Abigail Sveden, MS, CGC, a genetic counselor at the Boston Children's Hospital and member of the Rosamund Stone Zander Translational Neuroscience Center (TNC).

Together, they unpack the critical importance of the MIND Study — MED13L Syndrome Investigation of Natural History and Development — and what it means for families today and for the future of therapeutics.

🧬 What You'll Learn in This Episode:

• What translational neuroscience really means — and how lab discoveries move toward real-world treatments
• Why natural history studies are essential for clinical trial readiness
• How longitudinal data helps researchers understand development over time
• The role of neurobehavioral assessments (including the Vineland) in FDA-approved outcome measures
• Why standardized data collection is critical for future therapeutics
• New clinical observations emerging from the MED13L cohort
• How participation today helps prevent future families from facing a “Google search diagnosis”

Abigail shares how the TNC brings together experts in genetics, neurodevelopment, EEG, regulatory science, and basic research — all working toward one goal: improving outcomes for individuals with rare neurodevelopmental disorders like MED13L.

Vanessa also speaks candidly about the parent experience — the emotional weight of surveys, the importance of being heard, and why documenting your child’s story is one of the most powerful contributions you can make to the community.

📊 MIND Study Snapshot

• 🎯 Goal enrollment: 30 participants
• ✅ 27 fully enrolled
• 📈 24 have completed Year One components
• 🔁 Annual follow-up is critical for longitudinal data
• 📍 In-person visits at Boston Children’s Hospital prioritized (virtual options available)

Participation includes:

• Interview-style visits with the study team
• Neurobehavioral assessments
• Standardized questionnaires (including the Vineland)
• Medical record review
• Optional photo and biospecimen contribution

This data builds the foundation for:

• Clinical trial readiness

Transcript

The MED13L Foundation MIND Study - The importance of a Natural History Study with Abigail Svedeen, Genetic Counselor from Boston Children's Hospital

Vanessa Dias: [00:00:00] Hello and welcome back to the Voices of MED13L. I'm Vanessa Dias, a parent of a child with MED13L, and your host for today's show. Today we're taking a quick pause in our growing up with MED13L Series to focus on something incredibly important for our community, The MIND Study. A groundbreaking research initiative helping us better understand MED13L syndrome and move closer to future treatments.

But before we get started, I'd like to remind our listeners to follow us on social and complete the MED13L Census on the homepage of our website at med13l.org. Also, check the show notes for your community to-do list to make sure you're fully participating in the MED13L community.

Vanessa Dias: Welcome back to the Voices of MED13L Today I'm excited to have Abigail Svedeen a genetic counselor with us. Abigail is a part of the Boston Children's Hospital's, Rosamund Stone Zander Weiss [00:01:00] Translational Neuroscience Center For Simplicity, moving forward, we'll refer to it as the TNC. Abigail, we're so grateful for your time in joining us today on our podcast to help shed some light on a very important initiative the MED13L has made this past year.

But before we jump into that initiative, can you tell our listeners about what the mission of the TNC is?

Abigail Svedeen: Absolutely. Thank you so much for that wonderful introduction.

So the TNC is really focused on bringing together a multidisciplinary group of individuals who are really focused on rare neurodevelopmental diseases and working toward therapeutics for them. There are a lot of different parts of research that are important to work toward this goal. So we have experts in genetics, in neurodevelopmental assessments, in EEGs, in making sure that everything is being conducted according to, all of the regulations that the hospital has to follow, as well as some of the, what we call [00:02:00] basic science. So thinking about models of different cell types or animal models and making sure that everything is processed as it should be.

So lots of different components that work together for, I think the common goal that we're all really interested in, of. Trying to have different strategies for improving the lives of individuals with neurodevelopmental disorders, and I refer to them as NDD's during this as well, just for sure.

A lot of long words that we will abbreviate. And so the translational neuroscience center can you explain to the listeners what translational science means? Absolutely. So translational science is not just thinking about what might happen in a lab and how it's relevant for scientists, but thinking about how can we take this, maybe more complicated results and think about how we can apply it to.

Really creating something that is [00:03:00] beneficial for the community. So if we're thinking about MED13L Syndrome, there are so many different amazing innovations that are already taking place with what the foundation has created. So you can think about, if there might be a mouse model that has some similar features to some of the rare kids in the community.

Translate translational research aims to think, what's this mouse doing that's similar to what these kids are doing? If we're able to find a treatment that works for this mouse, is there a treatment that can work for kids as well? So it's really thinking about how we can take the more complex science and apply it in the real world.

Vanessa Dias: Last year, The MED13L Foundation formed a beautiful partnership with the TNC and Boston, children's Hospital, as we committed a $250,000 grant to support the MIND study. Right. And that's really why you're here today is to talk about the importance of this and how exciting this [00:04:00] is not just for the community today, but for the community tomorrow.

Can you tell us a little bit about your role and how you became involved in the MIND study?

Abigail Svedeen: Absolutely. So I am trained as a genetic counselor someone that each of you might have worked closely with early in your child's diagnosis, helping to understand the genetic testing process, whether it's right for you and what it means for you, your family, and your child. But I also work in a lot of different senses with importance of.

Research. So I have quite a few different roles with the mine study. And with Natural History Studies in general, I really have a role in helping to develop them and make sure that they are carried out, as well as having the partnership with the communities and the foundations that are so integral to everything that we do.

We find it so important to have the support and the input of. Actual patients and families [00:05:00] in the community so that we're able to make sure that their input is included in every step of what we do, as well as the goals of what we're trying to, have as the outcomes of our studies. So day to day you might be getting emails from me working on scheduling different components of the studies requesting data.

And then once you're actually having different parts of visits with us I will certainly be around whether I'm part of visits or not to be asking questions. Kind of a safe place that you can go to for anything that might be. Changing, challenging or anything related to the study. So we have a really wonderful team that goes beyond me as well, but I try to be a home base in terms of making sure that you have a familiar face to go to.

Vanessa Dias: That's amazing. And so for families hearing about the mind study for the first time, what exactly is the mind study and what does it stand for? I'm very happy to talk about that. We're big fans of the [00:06:00] acronyms here. So the MIND study stands for MED13L syndrome Investigation of Natural History and Development.

Abigail Svedeen: So essentially what we're trying to do with the mind study and other natural history studies is to understand what we call the course of a genetic condition. So we're trying to understand from the time that somebody is. Born and then through their life as they change and progress and grow, what can somebody expect?

And as with many different genetic conditions, there certainly is variability. So we can't know what to expect from each individual. But if we have enough participants in a study, in a natural history study, we can start to see, what are. The kind of typical features that somebody with MED13L Syndrome might have.

What is going to happen as they age, as they go through puberty, as they reach adulthood? And this can really [00:07:00] help us understand. In terms of research, when good times might be in the future, if we're thinking about therapeutics, to have potential interventions, to have potential treatments that are being used as well as ways that we can help families and kind of think about how this can inform clinical care as well.

So thinking. If we learn that all of our participants are having difficulties with seizures and then many of them take a medication and that medication is most beneficial, we might be able to actually help with their clinical care and make more broad recommendations about what has tended based on what the research shows to be helpful for these participants.

Vanessa Dias: When I first joined, my daughter was 18 months, and I just, I wanted to know is she ever gonna speak? Because it truly is for many, just it is a delay [00:08:00] and, speech does come out, not as typical as a child without MED13L now. But many do gain speech, a level of speech, a way to communicate. So to have the information as to when most of the kids hit, that milestone is kind of.

takes some pressure, I think off of parents where they're like, oh my gosh they're two and they don't have any words. And well my child has MED13L. And so typically these children, they may gain like a few words at a later time and it's okay. And this is just who they are.

And then also what I'm excited to see out of this is, you mentioned seizures, there may be a time when children. Don't have seizures early on, and then perhaps they're developing them later. So if we can have kind of the idea of when they are starting, we know when to look out for them and when to revisit the neurologist and when to get those EEGs again and just be just more aware and ready to react.

And then also puberty, right? When does that happen for the kids? All these things, for a parent you just, you [00:09:00] worry and when you collect this data through this study it just gives not just clinicians, but parents a little bit more guidance of, where things are gonna happen, when things are gonna happen.

And if they really don't, then what sort of interventions can you seek? What worked for other people, what didn't? I just think it's really exciting to do this so can you tell me why collecting the longitudinal data right now is so critical for the therapeutics and the research.

Abigail Svedeen: Absolutely. Yeah. So I hadn't shared when I previously talked about the natural history study that as a natural history study in general, that we do aim for it to be longitudinal, meaning that there is data that's collected over time. And the reason that this is so important is that having these different time points allows us to see what has changed.

If somebody is developing are there any new features? Are there things that have gotten better or worse over time? And as we start to look forward to [00:10:00] the future of therapeutics, this helps us to know as Vanessa you were saying about what to expect so that families. Families as well as once we're getting to the sage of Therapeutics and working with different industry leaders that they can have kind of this baseline of what's happening when somebody isn't using some sort of therapeutic.

So this is so helpful for us and we have lots of different ways that we are collecting data over time that I'm happy to share as well. 

Vanessa Dias: From my understanding, that really helps us get to the point of being ready for a clinical trial, right? Getting all of this information to where you said, when you're engaging with, these larger research organizations or perhaps doing a clinical trial to try to find or prove a therapeutic.

Having that history of this is what a child typically looks like with MED13L, but when we're trying these novel, these new treatments, were changing their trajectory for the better, right? And [00:11:00] so that's when you can go and say, Hey look, we found a therapeutic that works. And then it can be something that could be standard for a treatment for a child with MED13L.

So all of this is really in my understanding, creating the story kind of what our kids look like and how we can perhaps support them in different ways so that they can be their best selves. 

Abigail Svedeen: Absolutely. 

Yes. So a thing that we think, talk and have the goal of constantly is what we call clinical trial readiness.

So making sure that a condition or an organization focusing on that condition is. Ready when it comes 

time to be part of a clinical trial. So there are many different requirements that organizations have when they're starting to pursue a clinical trial. 'Cause there is a higher level of risk once you're, starting to use a treatment for an individual.

[00:12:00] And as part of those, those requirements really that they have, natural history is definitely one of them, as well as having ways to measure that change that we might be seeing if there is success of a trial. So I'd be very happy to talk about some of the ways that we're working on developing measures as well.

Vanessa Dias: Yeah, that's perfect. That was actually my next question for you is how does the MIND study fit into the larger initiative at the Translational Neuroscience Center?

Abigail Svedeen: Absolutely. Very happy to speak on that. So we have what we call action as a umbrella natural history study. So we are doing very similar types of data collection for multiple similar neurodevelopmental disorders.

All with the goals of developing natural history to have some sort of outcome measure or think something that we can measure for a future clinical trial. And all using similar types of data collection and taking advantage of the amazing team that we have [00:13:00] within the TNC. So one of the things that we think is, or I think we have kind of two.

Most important things which are the interview with our study team. This is something that all of the action cohorts, including the MED13L cohort does. So this is time that's spent with almost all of our study team where we take the time to really listen to parents and listen to families hearing, what?

Has been their child's course, what things have been challenging, what things have helped them, and really just learning from them. We know that parents are the true experts so we definitely try to take that time to make sure that we're getting information from them. And the other really core component of our study, especially from MED13L Syndrome, is.

We have neurobehavioral assessments and questionnaires that are very standardized, and these are one of the things that clinical trials are really [00:14:00] looking to have for neurodevelopmental disorders where there's not. There's not really an amazing way that has been developed so far that we can measure success of a trial for these complex conditions.

So these assessments may be similar to ones that have been done for individuals in a clinical setting, for example, to identify any behavioral diagnoses or to better understand their cognition or their thinking. But we do them for research to add to our understanding of the baseline that we've been talking about.

So what is this person's IQ their, behaviors, what is their ability to give attention to a task or to complete certain movements when they are not on any sort of therapeutic intervention? So this really helps us to understand. And then we also, as we said really learn from the parents.

So we have a series of [00:15:00] questionnaires that are. Incredibly helpful and important for us to have just that standardized information. One that many families are familiar with and not always fondly familiar with is the Vineland. And we know that this can be a challenging one for families to complete, but the reason that we are so.

Focused on having this is that it actually has been a measure that has been successfully included in trials as an outcome measure. So something that has been accepted as a way of measuring potential change for a trial. Yeah, and I think that for the community the community members that I've connected.

Vanessa Dias: For me personally, the Vineland is always, a sore spot for me. Everything is, " my child doesn't do this", "my child doesn't do that". And there's a lot of focus, which seems to be on the things that your child can't do, but to your point it's a survey that has been approved by the FDA and what they value as a [00:16:00] standardized survey.

That everyone can use and across the board. So it's not like some survey that's made up and, that's really tailored towards something that really doesn't have the backing. That this is a true survey that can track developmental changes and progress. And so unfortunately, as much as we don't like it we do have to do it because that's what we have to do for progress, the FDA requires that, and, they require that from the researchers so essentially what I'm trying to say is even though you don't wanna do it, you gotta do it, folks.

And I know that there's a plethora of surveys that go along with this study. And we'll talk about it a little bit later, but surveys in general are so important for our rare community, . It's so important for all of us to share what's going on in our children's lives so we can truly create a full understanding of what MED13L is and how does it present in the day-to-day life.

So, surveys, I [00:17:00] know everyone, feels like they don't have time for it, myself included, but they're so important, because your life is only going to be recognized by researchers if you document it.

My daughter and I, we're participating in this natural history study with you.

And when we met with your team in Boston this past summer, and we went through and we're answering all the questions and telling you about all of our challenges, there's a little bit of a therapeutic relief and kind of getting it out because speaking to someone like you, as a parent.

I felt like you were actually listening, so that, that is one of the benefits of participating in these studies is you actually get to speak to somebody who really wants to hear about your child and really wants to hear about what your life is like. And so the Vineland.

Unfortunately, it's a requirement for school and for any other research that you participate in, [00:18:00] but it is a necessary evil.

So can you tell the listeners about who is eligible to participate and what does participation actually involve for the families?

Abigail Svedeen: Absolutely, and I will just take a moment to say that it's really nice to hear from your perspective that even though there are the challenges that go along with some of the different assessments and the questionnaires and

particularly the violent, that there are moments that have felt helpful or felt really valuable for you because from a research perspective it's of course so helpful to meet with the families, but.

It's so meaningful for me as well. And I think for our entire team, the conference was such a reminder of why we do what we do and it's so that we are able to help the families and able to have these connections. And we are so focused on helping with the parts of lives that are important to people, which we do have ways of measuring as well.

But it's something that we're certainly thinking about. [00:19:00] Yeah. Thank you. Going back to your original question regarding eligibility and what's involved in this study. So for this study specifically, because we have a limited number of people that we're able to enroll, we are focused on individuals that have a confirmed diagnosis of MED13L syndrome.

So for us, this means that they've had genetic testing that was done in a clinical lab, so performed by a doctor rather than in a research setting. That identifies a change in the MED13L gene that is classified as either what we call likely pathogenic or pathogenic. And these are basically just fancy ways of saying that we know that this genetic change is contributing to the person's medical and or developmental features that they have.

So that is one of the. Main eligibility considerations. We also do prioritize individuals that are able to comfort in-person participation at Boston [00:20:00] Children's Hospital or conference data collection when we're able to complete that and. The reason that we think that is important is because there are certain measures that we include for our neuro behavioral assessments that are only validated in person, meaning that we aren't able to conduct the same measures or all of the measures for somebody that's virtual.

At the same time, we certainly know that travel is not easy for everybody based on where they are, what's happening in their lives. Their child's specific needs. So we do have virtual options that are available and are happy to accommodate people as they need, though if individuals are able to travel, we are certainly, we love to see people in person and are able to get slightly better data that way.

So thought it might be helpful to hear about that. And then in terms of what is included or required for data collection. So I've talked a little bit about the visits with the study [00:21:00] team, which are mostly interview style. And then if participants are in person, we also typically do a. Short physical as well as neurological exam.

So this will typically involve the doctor taking a look at the child's face, their ears, their nose, their hands and feet as well as having them walk perhaps checking their reflexes, so things that might feel similar to a typical doctor's appointment rather than research. In addition, there are the neurobehavioral assessments and the questionnaires that are completed by our expert neurobehavioral team who are so wonderful.

We also collect medical records, which typically involves having a release that is signed by the family. And then we have a couple of optional components. One is sharing of photos that help us to assess whether individuals have shared features that might be relevant for MED13L. I've heard some [00:22:00] families say that the first time they met another child with MED13L syndrome that they said, oh my gosh, I feel like they could be sisters or cousins.

So in a medical sense, it's also helpful for us to have this information. And then we also can collect blood and skin samples. So at this point, we're mostly just collecting information about whether individuals have these available anywhere that we could po possibly access in the future. And some of these components, the visits with the study team, the neurobehavioral components, medical records and photos, if they're being shared.

We do ask to have completed every year, approximately a year apart as possible with scheduling. 

Vanessa Dias: And that's the important part, right?

Abigail Svedeen: Absolutely, yes. That continued participation is so critical for this study. So over time, we're hoping that we'll be able to see if there are any changes in what people are experiencing. This might be especially relevant for individuals who are [00:23:00] younger or who might be going in, going through puberty or reaching adulthood who might be experiencing frequent changes and knowing how.

These change over time and what we can expect is incredibly helpful. And something that I mentioned as well is that we try to have these. We call them visits, typically about a year apart with a little bit of flexibility to accommodate people's schedules. And this is really important for the standardization that we've talked a little bit about before in terms of our neurobehavioral assessments and the questionnaires especially.

The timing of these is. Really important when they're being thought out, thought about, and looked at by clinical trials in the future. So having a high level of standardization is definitely a priority for us.

Vanessa Dias: One exciting thing about participating in this study is getting to actually connect with someone like you who's a genetic counselor, who, [00:24:00] many of us, we get our diagnosis of MED13L we're like, what does this mean?

I have no idea. There's this letter for some of us with these numbers and what does this mean? And so getting to connect with somebody who's so knowledgeable and who has met at this point, many children with MED13L I feel like it's such a gift to a family to connect with somebody who, can really say, yeah, I know.

Because I know my story is not unique, when my daughter was diagnosed, I was given a Google search printout of, different links to go to and here's a Facebook group.

And this was given to me by a top geneticist here in New York. And, he also told me, you don't ever have to come back. I don't ever have to see, like, here's your diagnosis. This is all the information I have and you don't have to come back. No follow-up is needed. And it's just crushing.

And, the genetic counselor I connected with at his office was lovely, but she was like. I've never heard of this [00:25:00] before. I don't know what this is. I've never seen a child. We, there's no other children in our practice who has this. So to connect with you or your colleagues that are seeing a fairly large group of children with MED13L is just so comforting to families such as myself who literally feel like we're

the rarest of rare amongst these rare kids. But joining the foundation, joining research, participating in research, you really feel like you're a part of something and you're connecting with those in the know, which is exciting.

So can you give the listeners an idea of what. success would look like for this study? Like what would you imagine is like the success point for this study? 

Abigail Svedeen: Absolutely. I think, we're very hopeful for success. I think we're on a great trajectory right now, and I think there are.

Are really successes that we think about at different points at this point where we're early or in the [00:26:00] middle of the study, we are very focused on data completion. So being able to have essentially everybody complete or fill out everything that they are required to do as part of this study is what is feeling like success right now.

So definitely important to have. All of the requirements kind of ticked off and we try to be very helpful with reminders and of course understanding that this is not everybody's priority at every point in time. So I think that's sort of our most basic level of success. But then there are also levels of success where, you know, some of the assessments or questionnaires that we're including turn out to be.

Really helpful. They might let us learn something new. They let us establish a baseline that when we eventually publish this, we'll be able to be used by different researchers, different teams that could potentially contribute to a clinical [00:27:00] trial, and that they'll be able to use that information as the base, the starting point for clinical trial, and that we'll identify something that can be used to say.

If this changes in a future clinical trial, if we do this before and after somebody has started a therapeutic and we see improvements, that could be enough to say, this trial is successful and this is a possible, medication or other treatment that could be used in the future. So that is really our very long-term goal.

And we hope that families do feel like they are. Being cared for, that they're being listened to and being accommodated along the way. That is always something that we're thinking about and trying to make sure that everything we're doing in is in alignment with what's important to the families.

Vanessa Dias: I think the other big part that comes out of that goes back to my story of the physician, the geneticist who'd never heard of this, and [00:28:00] who did the Google search to find the information. And then once this information is published, this information will then be on

Google or some, scientific Journal website that those physicians can go and they can learn themselves about what MED13L looks like at the different stages of development. And then be able to provide proper care for those families to say, okay, listen, some kids may develop this at this age. So we need to start watching for this.

It's just a win-win for our entire community. I want to stress to the community participation to the fullest for all of the surveys is extremely important. Continuing to make the trip to, to visit Abigail and her team with Dr. Chopra in Boston and. Really just, buying into this is not just only helping yourself, but you're helping the broader MED13L community. 

Abigail Svedeen: Absolutely. Thank you so much for making those points about the clinical impact that [00:29:00] this work can have as well. 'cause I absolutely see the publications, the work that we put out of this as being incredibly helpful.

So resources for clinicians in the future. We also. Have steps that we're taking along the way to educate and share more about what we're finding because it can take a while to go from the stage that we're at now to a publication that physicians can learn from in the future. So there. Are really so many outcomes of this that I think will be so beneficial for the MED13L community.

Vanessa Dias: Absolutely. And so as someone who's seeing a lot of children with MED13L and meeting families living with MED13L syndrome. What has stood out to you most about this community?

Abigail Svedeen: Just the joy. I feel like that is such a nonclinical perspective, but. I saw so many smiling faces and kids running around and hugging each other.

Ones that had, met in the past and getting to experience that. I feel like of course the [00:30:00] clinical features are incredibly important for the research, is what stood out to me just from. A human perspective and the importance of getting to come together. I think you also were speaking about, that some children take some time to come to be able to reach their developmental milestones, but they're coming.

Certainly that there's variability, but that was sort of your story with your daughter and I think compared to some of the other rare diseases that I focus on, I really enjoyed getting to engage in conversation with a lot of the different participants who, are at least a little bit older.

Some of the really little ones, of course aren't quite at that stage yet, but I loved getting to actually speak with the participants themselves. That was really lovely. And of course we have learned new things from the research as well. In terms of things that might differ a little bit from what has been shared in research before.

I think in a lot of ways our cohort is similar to those that have been published in research previously. But we have [00:31:00] learned some new things. For example, in our cohort, heart defects aren't as common as they have been in previously published research. We also found a couple of. Features when we were doing the physical exams that hadn't been reported very much before.

So one is, difference in the foot where it's turning inward is something that we've seen in almost half of our individuals, so quite a prominent finding. And then another is just a little bit of a difference in toenails, which I'm sure sounds so funny to hear about from a parent. You'd think, who cares about my kids' toenails.

But when a physician in the future might be evaluating a patient to see. What genetic diagnosis might they have something really specific like this can be so helpful in kind of skipping the long diagnostic odyssey that so many families go through. So something as seemingly unimportant as a toenail can have that impact.

So it is an exciting finding.

Vanessa Dias: That's so funny that you say that because, I jump in the [00:32:00] Facebook group periodically and there's so much communication about, Hey, does your child have this symptom? Or does your child, foot look like this? Do their hands look like this?

It's so interesting because, the comments are usually flooded with, yes, my kid does that too, and my kid does that too, or my kid didn't, or doesn't now, but did when they were younger. And it's so important to capture that information and pull it out of the Facebook group where it literally just dies.

The information just dies on social media and it doesn't get out to the people that need to hear it and need to know about it in order to, number one, make it so it's something that is expected. And two, perhaps a solution for it. So as you mentioned, my daughter was born with Metatarsus Adductus when she was first born, her feet were so turned in, and I was just

brushed aside saying, once she starts walking it'll flatten out. And of course me not believing [00:33:00] anything that I was told at the time. 'cause I knew there was something unique about my daughter. I had to fight and fight to get her feet casted. And, then she was in these little Bebas boots, which were super cute.

And then she was wearing orthotics and then even then she ended up needing surgery, she had to have a bilateral plantar fascia release. And it's something that is, it's so important for parents to know, to look out for and to push for treatment for many of the physicians that are in their local regions that they're just blowing them off or they're not aware or, don't have, the capacity to say up to date on these rare diseases. But if parents can go and they can pull this information and say, look, this is what happens with MED13L and this is how you can help support my child. I think it's so crucial.

So participating in these studies with these very, involved surveys and the continued participation is so vital to make sure that we're getting that information out of Facebook. [00:34:00] Community. I hope you're, I hope you're listening to me, pull the information out of Facebook and put it in these studies where we can do something with that information.

So with that said, where are we at with that? How many families are you looking for to participate still and, what can they do to make sure that their participation is, up to date? 

Abigail Svedeen: Absolutely wonderful question. So I may have mentioned earlier that we have a goal of 30 participants. That is what we decided was the best number based on our abilities and the foundation. And at this point we have 27 individuals that are fully enrolled, 24 of whom have completed all of their year one components of the study.

So we are working on. Just completing enrollment for the last three individuals. We've been very lucky to have an incredible amount of interest recently and are currently just working on getting those last few individuals in. So [00:35:00] if you do reach out and we don't have room for you at this point, we'd be very happy to help you find research opportunities.

I know that the MED13L Foundation has many other wonderful connections. If we don't have room for you at this time as well. But for those who are, those few individuals that are needing to complete their first studies, we. Do hope that we'll be able to see you in the next few months. We're on a little bit of a schedule in terms of just trying to complete our research in a timely manner so that we can get results out to researchers, clinicians in the community.

And as we've been really emphasizing completing the. Questionnaires and making sure that medical records get to us. And then for those that are coming up on their second year I'm sure many of you have started to hear from me and my team as well. So we would really appreciate you finding times to see us and considering if you're able to come in person.

To [00:36:00] Boston this year. If it's at all possible, we would absolutely love to see you. We are able to do a little bit more than we were able to do at the conference because we don't have as many time restrictions. So even if we saw you in person last year, there's definitely value in coming again. You'll get a lot more time with us, which we would definitely appreciate and would definitely be valuable in terms of the data.

And then when you do. Come back or as you're preparing for your visits, you will get sent that list of questionnaires again and, the check, check boxes of to-dos. And we so appreciate you just completing everything that you're able to and communicating if there's something that might be challenging to do and we can try to find workarounds if that is the case.

We really try to be accommodating and understanding that everybody has a lot going on and often clinical needs do have to come above research, which we completely understand. 

Vanessa Dias: Thank you to all that have, raised their hand to participate in contact [00:37:00] Abigail and get involved in this study. It really means so much to the entire community. But for those of you that are still wanting to engage and participate, we currently have on our website, a research page where there's a ton of opportunities listed that can engage in.

And each one there's like a dropdown box where you can get the information on who you need to contact. But the important ones that I would like to send out to the community are number one our census that's on the homepage of our website. It's the MED13L Census.

We're trying to get a true count of the community members around the world. Additionally, we currently have 190 people registered with Simon Searchlight. We have a lot more community members than that, so jump on to the Simon Searchlight, website. It's linked in our research page.

You can also connect with the genetic counselor through them, which is fantastic. We have 130 people registered with Rare-X, which is a different natural history study that it's definitely not [00:38:00] as complex, but it's more just us collecting t he data and a lot of the surveys are similar, if not duplicated, but they're very.

Different, it's going to different researchers. So it's really important to do all of the surveys, even though some of them are extremely exhausting to do all of them. And the easiest one that if you have five minutes that you're waiting at pickup or you have five minutes to sit down instead of scrolling.

Go on to Citizen Health and Register with Citizen Health. And the link is on our webpage under research. And I will also put it in the show notes. All of these, the Simons, the rare X and the Citizen Health, because currently we only have 37 participants registered with Citizen Health, and that's literally the easiest one.

It takes five minutes and they do pretty much all of the work where. You essentially give them your information and approval for them to go and reach out to your healthcare [00:39:00] professionals to get your child's medical records where they are creating a database of all of our children's medical records for us to then, we would then have to get researchers to comb through and find.

The actual clinical findings that they're finding in different imaging different blood work it's detailed in a different way than what Abigail your team is doing. So it's very important. So if anyone has five minutes and they want to give and participate, start with Citizen Health and then when you have more time, and again, it's not that much that's needed. Join Simon Searchlight as well as Rare-X So Abigail, thank you so much for spending your morning with me today. It's just so important for the community, I think, to hear a live person talk about the importance of things.

But if you could leave our community with one message about why the mind study matters, what would it be?

Abigail Svedeen: Mm-hmm. Well, thank you so much for your time as well, Vanessa. It's been so wonderful getting to chat with you again in this way and to [00:40:00] really speak on something that. I'm so passionate about and that I know all of our team is. So I think if we're thinking about, what's the point? I know that this study is a lot of commitment and we're so grateful for the families that have so generously volunteered their time.

I think that you can think about, how this is going to really have such an impact for families in the future in terms of, maybe not having the experience of going into a doctor's office and having them. Google the condition and feel like you'll have to be the expert to feel like in the future there are other experts that can support you.

So I feel like that is one major component as well as having hope for the future of, maybe the things that are really challenging for you and your family in the future, this will help lead to some sort of therapeutic that can improve the aspects of life that are most important to you, and to really be able to have your child and your family reaching their full [00:41:00] potential.

So we're so hopeful that this study will be able to contribute to that. We know for sure that we will. Learn so much from all the families who are definitely the current experts and hoping to truly just build to the body of knowledge that we have about MED13L syndrome.

Vanessa Dias: Thank you for that. And just to, to reinforce what you're saying, every story matters.

Everybody's story matters, especially when you're rare, every story matters, and participation helps build the path towards treatments and hope. Hope for a better future and an easier future for our children so that they can navigate life to their fullest potential. So I encourage listeners, if you're interested in participating in research beyond this natural history study check the show notes.

I've put links in there. And then for those of you that are already enrolled, please make sure that you're staying up to date with your surveys and responding to Abigail's emails and making sure that, we're taking it to the finish line. Thank you so much for your time today, Abigail.

Abigail Svedeen: [00:42:00] I appreciate it. Thank you so much as well. It's been wonderful speaking with you. Take care.