Helpful videos to guide your NF1-PN journey with GOMEKLI

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NF1-PN: Real-World and Clinical Perspectives

Learn about a treatment for adults and children

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Chapter 1: An Overview of GOMEKLI

Allison Fischer, CNP

Cleveland Clinic

Children’s Hospital

[Allison Fischer]
Hi everyone. Welcome. Thank you guys so much for being with us for lunchtime. We're excited to have you here with us.

My name is Allison Fischer and I am a pediatric nurse practitioner from Cleveland, Ohio. I'm working at Cleveland Clinic Children's Hospital and I will be one of the presenters today during this presentation. So thank you again for joining.

This presentation is sponsored by SpringWorks Therapeutics. SpringWorks Therapeutics is committed to developing therapies for people with rare diseases, and honored to deliver a much needed treatment option, GOMEKLI, or mirdametinib.

GOMEKLI is the first FDA-approved treatment for both adults and children above the age of two, with neurofibromatosis type 1, who have plexiform neurofibromas that cause symptoms and cannot be completely removed by surgery. It is not known if GOMEKLI is safe and effective in children under the age of two.

Before starting GOMEKLI, you should tell your health care provider about all of your medical conditions, especially if you have underlying eye or heart problems. If you're able to become pregnant, your doctor should give you a pregnancy test before you begin treatment, as GOMEKLI can harm your unborn child.

Males with female partners should tell their provider right away if their partner becomes pregnant during treatment with GOMEKLI. It is not known if GOMEKLI passes into your breast milk, so you should talk to your doctor about the best way to feed your baby during this time as well. We will also go over additional important safety information later in the presentation.

Today, I will be giving an overview of GOMEKLI clinical trial results as well as GOMEKLI dosing and administration information. Then I'll be joined by three very special guests for a Q&A session about NF1-PN and GOMEKLI. So let's get started.

Neurofibromatosis type 1, or NF1, is a genetic condition that affects about 1 in 2500 babies. Plexiform neurofibromas, which can be called PNs or plexiforms, are tumors that form in some of the people living with NF.

The content I'll discuss today is only for people who have NF1 with plexiform neurofibromas. Plexiforms are slightly different from other types of neurofibromas associated with NF1, such as cutaneous neurofibromas. People who aren't living with or caring for someone with NF1-PN don't always understand its impact.

The most common symptoms are pain on and around a plexiform, difficulty moving around because of a plexiform on a joint or a limb, and changes in appearance. While surgery to manage NF1-PN may be an option for some, it can be restricted dependent on the size, location, or other underlying medical reasons. Even when it is possible, we know that up to 85% of plexiforms cannot be completely resected.

Additionally, patients can experience complications after surgery, and in some cases plexiforms can grow back. We know that nearly 1 in 4 plexiforms removed by surgery can have the potential to regrow. So until GOMEKLI was approved, there was no FDA-approved treatment options for adults with plexiform neurofibromas associated with NF1.

GOMEKLI is a MEK inhibitor, which means it's a targeted therapy, so not the same as chemotherapy. And it works by helping to block certain signals in the body that cause the growth of plexiform neurofibromas.

GOMEKLI was studied in a large single-arm clinical trial called ReNeu. It included 114 total people, 58 of them being adults and 56 children and adolescents between the ages of two and 17 years old, with neurofibromatosis type 1 associated plexiform neurofibromas.

In the GOMEKLI clinical trial, the primary measure of efficacy, or how well it worked, was something called a confirmed overall response rate. An overall response meant that a person treated with GOMEKLI had a plexiform shrink by 20% or more, as shown by MRI, or a magnetic resonance image.

When we say a confirmed part, that means that another MRI scan done showed that showed at a later date, showed that the plexiform remained smaller, or remained at least that 20% shrinkage or more. And you may be wondering why a 20% reduction equated an overall response. And this is because a 20% change in plexiform neurofibroma volume is the standard benchmark that we use in NF1-PN in clinical trials. Now let's look at the results. 41% or 24 out of the 58 adults treated with GOMEKLI saw their plexiforms shrink by at least 20%.

The visual on the screen shows that the top circle, so if you look at that dark purple top circle on the top, that's like the original volume of a plexiform neurofibroma. And then that lighter purple would show what a 20% reduction or shrinkage of that plexiform tumor looks like. And so we know that 52% or 29 out of the 56 children and adolescents treated with GOMEKLI saw their plexiforms shrink by at least 20% as well. In a separate post hoc analysis of people who responded, 15 out of 24 adults and 15 out of 29 children and adolescents saw their plexiforms shrink by more than 50% in size.

You may be wondering when people taking GOMEKLI started to see results. Some people on GOMEKLI saw their plexiforms shrink by at least 20% within months of starting GOMEKLI. The median or middle amount of time it took for plexiforms to begin shrinking by at least that 20% was 7.8 months in adults and 7.9 months in children and adolescents.

How a medicine is taken is also an important aspect of treatment, so I'd like to provide a quick overview on GOMEKLI dosing. GOMEKLI is an oral therapy that is taken twice a day, about 12 hours apart, and can be taken with or without food. Your health care provider may decide the right dose of GOMEKLI based on your weight and height.

They also can interrupt, reduce or permanently stop GOMEKLI treatment if you experience certain side effects. GOMEKLI comes in two different forms: tablets for oral suspension and capsules that come in two different sizes based off of the dosing. Oral suspension means that the tablets just can mix or disperse into water, so the medicine can be taken as a liquid, which is important because this may allow for GOMEKLI to be easier or more easily taken for people who have difficulty swallowing pills or tablets.

The tablets can also be swallowed whole if preferred. The GOMEKLI prescribing information includes instructions on how to mix or disperse the tablets for oral suspension into water, and you can find this information or the full prescribing information at GOMEKLI.com.

GOMEKLI has a four-week dosing cycle. But what does this mean? So each GOMEKLI cycle is for 28 days or about four weeks long. For the first three weeks or 21 days of each of those cycles, GOMEKLI is taken twice a day, every day. And then for the following seven days, GOMEKLI is not taken at all. After the treatment-free week, the next cycle would begin and just restarting that so 21 days of being taken every day and then a week off. It's important to take GOMEKLI as directed by your health care provider.

It's important to note that GOMEKLI may cause serious side effects, including problems to the eyes, heart or skin.

GOMEKLI may cause eye problems that can lead to blindness. Your health care provider will check your vision before and during treatment with GOMEKLI. Tell your health care provider right away if you get any of the following signs or symptoms, including blurred vision, loss of vision, or other changes to your vision.

GOMEKLI may lower the amount of blood pumped by your heart, which is common in children during treatment with GOMEKLI and can sometimes be severe. Your health care provider will do tests before you start GOMEKLI treatment every three months during that first year, and then on an as-needed basis, to continue making sure that your heart is working properly.

Tell your health care provider right away if you get any of the following signs or symptoms, including coughing or wheezing, shortness of breath, swelling of your ankles and feet, tiredness or increased heart rate. So even though we have these intermittent check-ins during therapy, it's important to let us know also, if anything happens in between. Skin rashes are common with GOMEKLI in both adults and children and can be severe.

GOMEKLI can also cause hair loss or alopecia. So tell your health care provider right away if you get any of the following signs or symptoms like a flat skin rash, raised bumps on the skin, skin bumps that look like acne, skin redness, itchy rash, or peeling skin. Your health care provider will check your vision and make sure your heart is working properly before and throughout GOMEKLI treatment.

But again, it's still important to tell us if any of those things are occurring in between. If you're a female who is able to become pregnant, your health care provider should check to see if you are pregnant before beginning treatment with GOMEKLI. It's also recommended to use effective birth control or contraception during treatment with GOMEKLI, and for at least six weeks after your last dose. Tell your health care provider right away if you become pregnant or think you may be pregnant during the treatment with GOMEKLI.

If you're a male with a female partner who's able to become pregnant, use effective birth control or contraception during treatment with GOMEKLI and for at least three months after your last dose. Tell your health care provider right away if your female partner becomes pregnant or thinks she may be pregnant during treatment with GOMEKLI.

If you're breastfeeding or plan to breastfeed, it is not quite known if GOMEKLI passes into your breast milk, so do not breastfeed during treatment with GOMEKLI and for at least one week following your last dose. Talk to your health care provider about the best way to feed your baby during these times.

GOMEKLI may cause fertility problems in females, which may affect your ability to have children. Talk to your health care provider if you have any concerns about fertility. Important would also be to tell your health care providers about any of the medications you're taking, including prescription and over-the-counter medications, vitamins and herbal supplements.

These are not all the possible side effects of GOMEKLI, so call your doctor for medical advice about additional side effects, and you may report side effects to the FDA at 1-800-FDA-1088.

The most common side effects of GOMEKLI in adults and children and adolescents were diarrhea, nausea, muscle, joint, and bone pain, and vomiting. Adults also experienced tiredness, while children also experienced stomach pain, headaches, skin redness, swelling, or pain around the fingernails and toenails.

The most common severe abnormal blood tests results in adolescents and children as well as adults involved an increased enzyme called creatine phosphokinase, or CPK, for short. Some children were also noted to experience decreased white blood cell or neutrophil counts. Most people taking GOMEKLI did not have to stop treatment, though, due to side effects. So even though they were experiencing some, the majority of patients that did not have to cease therapy for that reason.

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Chapter 2: GOMEKLI Ambassador Q&A

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Q&A SESSION

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Austin

GOMEKLI Patient Ambassador; currently on treatment

Kylie

GOMEKLI Patient Ambassador; currently on treatment

Seetal

GOMEKLI Caregiver Ambassador; has 2 children currently on treatment

[Allison]
In this next part of the presentation, I'll be joined by three very special guests for a Q&A session about NF1-PN and GOMEKLI. Please welcome GOMEKLI Patient Ambassadors Austin and Kylie, who are both currently on treatment with GOMEKLI. And GOMEKLI Caregiver Ambassador Seetal, who is living with NF1-PN and also has three children with NF1-PN, two of whom are currently on GOMEKLI. Remember that we'll discuss here today is their personal experience with both NF1 as well as GOMEKLI treatment, and everyone's experience may differ a bit. Thank you for being here today. We have so much to talk about, so I'm going to join you guys here and we can begin.

All right. So I'm going to start by asking a lay-up question hopefully but when were you guys first diagnosed with NF1-PN?

[Austin]
So I was first diagnosed when I was two and a half years old. My parents noticed a large, discolored mark on my back that resembled a bruise in the lower left flank. You know, just thinking it was a bruise and didn't think too much of it.

Both my parents were in the health care field, and after it didn't go away for a week or so and it stayed the same, they started to have a little bit of concern. My father and paternal grandmother both have NF1, and because of this, my family always knew there was a possibility of NF1 being passed on to me or my siblings.

My parents suspected the bruise could be related to that, so they took me to my pediatrician to have a follow up to see what was going on, and they learned the bruise on my back was actually a plexiform neurofibroma, and through testing I was diagnosed with NF1 with the plexiform neurofibroma.

[Kylie]
All right. So similar to Austin, there was always a possibility for me to be born with NF1-PN. My father was born with neurofibromatosis, and my brother as well, four years before me. So, when I came out having spots that looked like those café-au-lait marks, it was pretty obvious from that very beginning that I was also going to be diagnosed with this condition, and genetic testing later on did confirm, in fact, that I was positive for NF1-PN.

[Allison]
And Seetal, you were diagnosed as a teenager, correct?

[Seetal]
Correct. I wasn't diagnosed until I was 15. I was having abdominal pain, bad enough that we ended up in the emergency room and the doctor came out and he was telling me and my mom that it had all the clinical markers for NF1-PN, including the fact that the pain was caused by a plexiform neurofibroma in my abdomen. We didn't even know what it meant. We hadn't ever heard neurofibromatosis before, but he explained it was a rare genetic condition, and from there we got a neurologist, met with them.

I was officially diagnosed with NF1-PN, and from there we were monitored with routine MRIs and things just kind of went on.

[Allison]
And I know that we mentioned you have three children that had NF1-PN. So how was your experience with their diagnosis?

[Seetal]
With my eldest, we noticed his café-au-lait spots at first when he was little. We spoke with his pediatrician and were recommended to see an ophthalmologist, and from there he was around nine months old when we were able to get his first eye exam, and they were able to identify the NF1 markers in his eyes, and things were kind of confirmed, the suspicions were confirmed and he was diagnosed with NF1-PN as well.

Like Alex, my son Timothy had café-au-lait spots at birth and genetic testing later confirmed his diagnosis as well of NF1-PN when he was a couple of years old. And with my daughter, she had café-au-lait spots that we noticed a couple of days after she was born and she underwent genetic testing at a year, and which was the earliest of any of the kids but it helped her brothers had already had it, and she was confirmed to have NF1-PN as well.

[Allison]
And Austin and Kylie, I'd like to go back to your childhood diagnoses and early years with NF1-PN. What was it like living with the condition and what at that time did management look like for the most part? And Kylie, we can start with you.

[Kylie]
Yeah. So, I like to say that living with NF1-PN is essentially like living with the smorgasbord of genetic conditions. I mean, every person in this room is a caregiver or is a patient themselves knows that we are not identical to anybody else in this room. We all are going through very similar things and we can relate on experiences, but we have different stuff going on. And for the beginning of my life, in my journey with this condition, it actually wasn't as largely focused on the plexiforms as it is now.

When I was a little girl, we discovered very early on that I was one of the lucky few that had the bone bowing in my tibia, and when I was two years old, the bone completely snapped in half. And I had a nonunion in that leg for about three years. I was in a cast, I had a bone stimulator, and then I went into surgery and got rods inserted, the whole shebang, including a KAFO to boot, which is that brace that goes all the way from the tip of your toes up to your hip. So that was largely the focus of my treatment.

I did have a plexiform that the doctors were aware of. It was in the middle of my back, right where those first café au lait spots were found as a baby. But it wasn't until I was a bit older and had gotten what I thought was going to be the main crux of my condition under control, that I realized there was something else going on. When I was in high school, around 16-17 years old, I started having these muscle spasms in the middle of class where I would be trying to do my work, listen to the teacher and my right leg would just jut out and slam into the wall against my will.

Obviously this wasn't normal, and even not knowing what it was, I assumed that we were going to need to go and talk to some professionals about this. Sure enough, it was being caused and tied to a 19-centimeter-long plexiform that was growing in my right thigh.

We did a long MRI. It was about six hours long to first identify this growth and figure out exactly what we were dealing with and what we could do about this. And it was in 2018, I believe, when the issue first started. So this was long before a treatment like GOMEKLI was available. So we were once again thrown into that ocean of questions. What do we do? Who do we go to? Can anything be done at all? So it was a long journey. It caused a lot of confusion because this wasn't something we had really dealt with before. We always knew I had had a plexiform, but for the very first time, it was now affecting my ability to live my life, to be able to enjoy being a teenager, to live without pain. And we tried multiple rounds of cryoablation therapy, which was essentially them trying to freeze the tumor using these needles.

But after one round, two rounds, three rounds, we realized this is just symptomatic. This isn't actually healing the issue. So we went back to the drawing board. And after hearing about it on what I believe was either one of the Sunday morning talk shows or some other group where people are sitting around talking about what's happening in the world, we found out about MEK inhibitors and started the very long journey to getting on them and starting a path that I am now very glad to be on.

[Allison]
Thank you so much.

[Austin]
Yeah, so my toddler years were filled with many doctor visits to monitor the tumors and deal with back pain, and we ended up even nicknaming my one tumor Ralph. And just out of one of my favorite childhood books. And my doctors warned my parents that if the tumor grew, I would need to undergo surgery to remove part of it, which would be a high risk, due to the potential of complications. If I could speak. And lo and behold, the doctors were right that it would, that it grew. And by the time I was four and a half years old, I had my first major surgery to partially remove or debulk, one of my tumors. And that portion they had to remove was actually the size of a foam football out on my back.

So what a 4 or 5 year old kid and I had to have a foam football removed from my back. And after that surgery, I remember I was bedridden for an extended period of time and then going to physical therapy to learn how to learn how to walk again. And then just so I was getting back on my feet, just ten months later, I had to undergo another surgery because the tumor started growing back into the spine again and this time the portion they removed was about the size of a golf ball. Recovery was still the same, and I remember this was during like the holiday times as well. So I was bedridden during all the times where I'd like to go out and play in the snow.

But yeah, it was one of those just a long, hard journey with that.

[Allison]
Yeah, absolutely. And to the testament of how long and chronic this journey is, was there ever a point in time where you actually disengaged from care or the, you know, the appointments became too much and you weren't following with medical providers? And if so, can you tell us about that and kind of what prompted you to come back to medical attention?

[Austin]
Yeah, definitely. As I was growing up, my pain levels just started to vary a lot, and it got to a point where my pain was controllable, well, uncontrollable at first. So I had to spend several weeks in the hospital, followed by a few days of bedrest, and saw several doctors, from pediatricians to pain management, NF specialist. We'd try over-the-counter medications to help manage it. And then just by some reason, by the time I was 18, the pain just started to either minimize or I just got so used to it that I felt that I'm doing good. You know, I made probably one of the biggest mistakes I like to say I've made in my life and just balled. I fell out of regular care, going to see my NF doctor or even really my regular doctor as well.

After graduating high school, not dealing with much pain, one of my biggest thing I was determined to join the military and something that had always been a dream of mine. I talked to a recruiter, but my NF1-PN was a big issue and made it impossible for me to join. So instead, I put that, I pursued a career in law enforcement, and I probably wore my badge for about six years. But, NF1-PNs are relentless, and they come back. They came back to where I needed to go back into care. And that's what I eventually did. And I knew it was just time to see the doctor again. So I made an appointment to talk to a neuro oncologist, and we talked about options, and she told me about a trial that was coming up for mirdametinib. And I decided that that sounded right for me, and I wanted to get on board with that. I knew I couldn't live my life the way it was, and my doctors and I both agreed that it was a good treatment plan for me.

[Allison]
And I imagine the trial that you were referring to is when you learned for the first time about GOMEKLI.

[Austin]
Yes. So that's what GOMEKLI ended up being called, was GOMEKLI the mirdametinib trial. And during my appointments, my oncologist mentioned that there was that clinical trial and I was on board with it. I've been on previous clinical trials, and I was anxious to see something new that could work. She explained the goal of the trial was to shrink the tumor by at least 20%, in adults and children ages two and up. And then in 2020, we learned that I qualified for the trial and I got started.

[Allison]
Very good. And Seetal, I think your GOMEKLI story began with your youngest child. Is that correct?

[Seetal]
Correct. We first learned about GOMEKLI with our daughter Victoria. And we first discovered her PN in the summer of 2020. And it was completely by accident. Her dad was playing with her. He went to pick her up and noticed what felt like a small pebble in her armpit. And it couldn't have been more than like the size of a small pea. And a lot of people might overlook it and dismiss it, but because of their health and everything, we knew it could be more. We knew better. And she later had an MRI and it showed the full scope of the condition, and it was a lot bigger than the size of a pea. It was a hard point, you know. But it it wrapped around her chest wall from about the front of it, close to her spine, from the sternum to close to her spine. And it was pressing up against her left lung so it couldn't fully inflate. And we couldn't believe that it had been growing in there the whole time she'd been playing, running around, you know, like any other kiddo. Hadn't complained about pain. She kept up with her brothers and the office called to go over, schedule an appointment, have an in-depth conversation with her hematologist oncologist about options. And he presented us with, he explained the treatment had to be discussed immediately.

It wasn't a point where we could, like, sit and wait and monitor. And surgery also was a recommended by her team just because of where it was and it being so invasive. They wanted to try treatment first for her, and we were given the option to enroll in the clinical trial for mirdametinib, and you know, we heard about it.

They told us that part of the clinical trial, she'd have routine appointments, monitor her condition, everything from echocardiograms to EKGs to MRIs, you know, see her ophthalmologist more and they sent us home with a ton of information. But at the end of it, we decided that the clinical trial was the best option for her at that point. So towards the end of 2020, Victoria started her treatment journey on mirdametinib. Despite her age, she handled the trial incredibly well. In fact, she thought it was cool to be a part of it and loved telling people about it.

[Allison]
Of course, awesome. And how about you, Kylie?

[Kylie]
Well, I feel a little left out because I wasn't in that trial. But, you know, even before GOMEKLI was, you know, finished with these trials and completely approved. I had heard of these MEK inhibitors, and like I said, I set down on the path to try to get to them.

But man, I think everybody has that one road in their city that's just full of cracks and potholes and beds, and you hate driving on it. Now imagine that, but it's a medical journey because I can tell you, we had a lot of pit stops, breakdowns and hit every wall imaginable trying to get to a point where we found somebody who we could talk to. Who knew what these new medicines were, what they could do, and could help us on this journey.

I feel like that's one of the biggest hurdles a lot of people face is being able to not only find the team of doctors and caregivers that they need, but getting them to coordinate with one another. Because it's not just a matter of going and grabbing a pill, it's a matter of making sure that it is the right treatment for you, that you have everything managed, and that was part of this wild ride I had gone on. I was getting the echocardiogram, the eye exams, going here, there, asking every person that we could.

All right, what's next? What's next? What are we going to get to that end point where I can get started on this? And it wasn't until I found a wonderful hematology oncology team that I sat down with after many tears had been cried and many walls have been hit. And he had said the name for the first time. He said, have you ever heard of GOMEKLI? I told him, no. What is that? Tell me. And he was very informative. He was very good. He told me about what the medicine did, what the potential side effects were, and I left his office with a prescription the same day. So, you know, he really made the effort to get to know my medical history, discuss those side effects with me, such as the rash, diarrhea, nausea; muscle, joint, bone pain, vomiting, tiredness. But I just wanted to try something to address this PN and the conversation with him gave me that confidence to move forward. It was a good option for me, and I did start GOMEKLI that same day in April of 2025.

[Allison]
Sounds awesome. And, so it sounds like you and your doctor had a very robust conversation about what to expect with GOMEKLI. Was that the case for you? Austin and Seetal?

[Austin]
Yes. My doctor discussed the potential side effects with me and hoped to see the results by the first year of taking medication and went over all the same side effects that Kylie mentioned as well.

[Seetal]
Yeah. With my daughter, we went over the side effects ranging from nausea, fatigue, skin reactions, hair loss, to more of the serious ones like vision problems. We were given information ahead of time to take home and review before starting, and when we started treatment, he told us to give it about a year at least to see full results, though we might start seeing things sooner.

[Allison]
You know, when I'm counseling families as a health care provider, you know, I think it's super important that patients have real realistic expectations going into any treatment, really, but treatment with a MEK inhibitor in particularly like GOMEKLI.

And so during those initial conversations or what I call like a priming appointment, we talk about three major things. And I, it sounds like that's the case with your guys' healthcare providers as well, but especially just the goals of treatment, the length of time we expect you to be on treatment, and then the side effects that could potentially accompany that medication, and what does that look like? How do we manage that?

And so starting to treatment, starting treatment I think it's important to recognize our goal isn't necessarily always shrinkage, because we know that that can take a bit of time before that comes to fruition. And so stability can sometimes be key with the hope that shrinkage does come in the months to come. I also, with MEK inhibitors it's hard for how long we stay on it. But the goal that we always counsel on, at least in our office, is to start treatment with the intention of being on it for a year or two at least, unless toxicity or side effects make it intolerable to do so. But giving it that time to really create that sustainable response is important.

And I think the third thing, especially contributing to quality of life on medication is what do the side effects look like? What is my day to day going to look like? And what are we going to do about it? How are we going to tackle it? So prepping for side effects is key. And I think that at the beginning, frequent appointments for that eye monitoring, for MRIs, for echocardiograms and getting plugged in with all of the specialties that can help make it as much as, as tolerable and as comfortable as possible, is important. So that way we know what to expect and we know what to do about it.

And I think, you know, at least in my field and I think Seetal, you can probably relate to this as well, but being in a pediatric field, making sure that that's explained to our pediatric patients at an appropriate developmental age, but also that caregivers are on the same page is super, super important. And knowing that we have ways to manage certain side effects and you aren't walking through that journey alone, but have advice on how to how to go about that as is ultra important. So usually understanding what to expect, knowing we have plans to help alleviate your concerns, make jumping into treatment a little bit easier. And so that's what our goal is as health care providers as well.

And what have your guys' results been on GOMEKLI? Kylie, we could start with you.

[Kylie]
Say I'll go first. Well, I can, making sure I'm there. I have not kicked any more walls. That's a good thing. The muscle spasms are gone. And I am very happy to say that that large PN on my leg has decreased in size significantly.

[Seetal]
Victoria's PN has shrunk while she's been on GOMEKLI, and I can say that once it started shrinking, her symptoms started improving. One year after being on GOMEKLI we got the results we wanted. The goals were met of the trial and her tumor had shrunk. Her experiences from the trial kind of helped us along and then especially following FDA approval afterwards, we wanted to see if our oldest, Alex, was a good candidate as well.

Years ago, he had a debulking for a plexiform in his pelvis. It was wrapped around the sphincter muscle of the anus. They weren't able to remove the whole portion, but they removed a significant amount of it. So we thought, you know, with how well his sister had tolerated, he would potentially do very well on it. So we spoke with his doctor and he agreed that GOMEKLI would be a good option for him. And he started treatment in May of 2025. And he's done really happy. He's done really well with it so far and we're happy with the results.

[Austin]
Yeah. For me it was about the one year mark.

So July of 2021, I brought my mom with me to my follow-up appointment because I knew this was going to be a big one for me, and she's followed me through my entire journey. And I was going to learn whether the treatment was working for me, and my tumor had any, shrank any. By then, the appointments, the MRIs were starting to feel exhausting, and I've kind of I was kind of on the fence of considering stopping treatment because the rash was kind of cumbersome for me at the time.

But at the visit, we received the best news I could have heard, and that just left me speechless. We learned that my tumor had shrank 57% in that first year on GOMEKLI. And as I said, I was talking to my mom about considering getting off the medication, and there was a threshold that I kind of set, and my mom just turned to me and said, well, that answers your question about whether you should stay on it or not. And I just was speechless and said, yeah, and shook my head.

Yeah. And that just changed everything for me because I, you know, I was it was one of those biggest things that living through it my entire life. And I've now been on GOMEKLI for about six years. I think in next week or two weeks will be six years exactly.

[Allison]
You can't argue with that. Have you experienced any side effects with GOMEKLI? And if so, how do you manage them or how do you guys go about that in your day to day?

[Austin]
Yeah. So since starting GOMEKLI, I've experienced the occasional itchy skin rash. And it's for me, it usually occurs around the the second or third day of the off cycle, as well as an upset stomach if I don't stay hydrated enough, and I've been able to work with my doctor to manage these. The rash when it occurs, biggest thing that has helped me personally was just like baby lotion, just to help with the itchiness and everything and just kind of soothe it. But again, this is just my experience with it and what's worked for me. It may not work for you or anyone else.

[Seetal]
Victoria had some side effects. Hers were fairly manageable. She had some nosebleeds that would start randomly at the beginning, but it would always stop within a reasonable amount of time. It was more frequent when she started, but it's become less frequent over the years, and it's always been fairly manageable. For Alex, he had the rash where it looked like a bad acne breakout all over his face, his neck, his chest and his back.

But, they were able to get that under control as well. Our health care team has been amazing. They added some extra topicals for him to help treat the rash, and it's helped cover it. They've gone away and he's been able to keep that manageable as well.

[Kylie]
For me, I'd say the biggest part of it was right when I had begun. That's when I had the skin rashes, very similar to your son. With that, what looks like a big acne breakout, feeling like I'm back in high school when all the issues started. As I say, I get a rash on my neck normally around the same time you said the second or third day into the off cycle.

But occasionally throughout those days where I am taking the med, I get the scalp issues. I did have some hair loss in the beginning, but just like with a lot of these things, what helped me in my journey personally was having a really great relationship with your dermatologist, and I'd like to think my hair is looking pretty good for somebody who was living it.

But the rash had been able to be treated for me through topicals and some oral medications, such I mean, they were discussing that too in the panel the other day. So, you know, we have really great care teams that are on top of it. And, you know, while my experience got significantly better and, you know, I'm having very minimal symptoms now that I've gotten to my one year mark and stuff.

Just similar to Austin, say, you know, this is my personal experience, it will most likely not be the same for everybody. It definitely won't be the same for everybody. We're all on our own journey, but this is what has worked for me and I'm very glad of the result.

[Allison]
Very good. And I know a question that I get in my clinic a ton is how do you manage the dosing schedule of being on for three weeks and then being off that one week? So has there been anything that's been resourceful for you guys at home? On helping to manage that?

[Seetal]
Oh, 100% for Alex and Victoria, they both take other medications as well. So they each have their own pill organizer, and it has seven smaller compartments in there, and set up their medication for the week. So they've got their AM/PM stuff in there. So we're able to organize it every week. They've got their medication in there. And we also have a wall calendar. And I started it when Victoria was smaller. And I'll admit I did it in green and red at that point. And I just wrote “med start, med break.”

Very simple for her to understand at that point, but that way they can see where they're at in the cycle and they're like, oh hey, I'm off cycle. You know, this is time off, and then I'm starting again in a couple of days. And for them to able to keep track of where they're at and be involved in it as well.

[Kylie]
So when you enroll in the SpringWorks CareConnections support program, they send you a GOMEKLI starter kit in the mail. I was not expecting this. I did not know it at first, but I was very excited because the kit includes a dry erase dosing calendar and a pill box that you can use to keep track of your doses, and a calendar that I can put up on the fridge.

I wish I could have brought the kit down to show you guys like a little show and tell, because I love this thing. I put all my stuff in there, and I also have an app that alerts me for my dosages in the morning, in the evening, and it automatically knows if it's my off week or not, and it's a little hard to forget your dosage when something like this can have a voice contact you every day at 10:00 saying, hey, take your pills.

[Allison]
Well it's funny you mentioned the kit. While I don't have it in person, I do have a slide here to show everybody what's on it. So it's designed to help you start and stay on GOMEKLI and includes a variety of different resources, including the calendar and the pillbox like you mentioned Kylie. But also comes with like a treatment journal so that way you can keep track of all of the side effects you're feeling in between appointments with your healthcare provider. A helpful guide for people just getting started on treatment and then also a stress ball, because who doesn't need a stress ball?

[Kylie]
Oh, I was sitting there playing with that thing while I'm gone.

[Allison]
Yeah. Are there other GOMEKLI tools or resources that you guys have found particularly helpful, aside from the starter kit?

[Kylie]
Yeah. So I had briefly mentioned the GOMEKLI Medisafe app that helps to keep track of my dosages, the reminders, when I need to take my pills, when I have taken them, I love it. I, I would say this app is one of the biggest and most helpful tools that I have utilized.

Because I'll be real, there are some days where I'm in the middle of the day, I get sidetracked and I ask myself, wait, is this my off week? Is this not? And if I'm not at home to check that calendar, all I have to do is pull up the app and it has what time I'm taking it, what time I did take it that day, if I hadn't, when my off cycle is. It is a wonderful tool and it's customizable, user friendly. I just, I love that app. I cannot sing its praises enough.

And I would also say that the SpringWorks CareConnections has been very helpful in assisting me with symptom tracking and ensuring that I am being consistent and noting down everything I need to with this treatment.

[Allison]
I know SpringWorks CareConnections has been mentioned a couple of times now, so for those of you who don't know what that is, it's actually a personalized support program available to you or your loved ones going through treatment with GOMEKLI. And through this program, you can access help with insurance navigation, with financial assistance, as well as both educational and emotional support.

And Austin, any other programs that you have had a good experience with or wish you had experience with when you were first starting?

[Austin]
Yeah, so GOMEKLI offers some great programs that I kind of wish were available when I first started taking the treatment. The GOMEKLI Mentor Program is a wonderful, helpful resource.

Whether you're just starting treatment or been on GOMEKLI for a while. Once you register, you get to have a one-on-one phone call with a GOMEKLI guide or mentor. I'm actually one of them, so it could be me that you'd speak to, but who can relate to what you're experiencing. And you, you can talk about just your everyday life of of dealing with NF or about some fun things you like to do, you know? And another good thing is the GOMEKLI Milestone Moments. It's a new, new program designed to celebrate how far you've come and to help keep you motivated to stay on track while you're on GOMEKLI. And after you sign up, you'll see letters of support in the mail during your first year of treatment. And it's something I would have loved to have both of these when I first started out, because I love talking to people, seeing similar experiences about that, even even with just the one time phone call on that, and the support that I just received from others has helped me keep going throughout this process.

So I know how important it is to have someone to talk to, get guidance from, especially in those tougher times, like especially for me during the first year of treatment, the acne rashes Kylie was mentioning as well was worse. It did get better for me and it may not get better for you. It hopefully will, but it's one of those things that it was really rough at the start and as I said, I considered stopping until we found out the 57% decrease.

[Allison]
Yeah.

[Kylie]
Yeah, I couldn't agree more. It's really great that once you're prescribed, you can connect with somebody who understands what you're going through. I mean, as we all know, that's one of the toughest things when you're going through treatment or even trying to get started on treatment with anything is having that system of understanding and connection.

[Austin]
Yeah, yeah.

[Seetal]
When we first started and my daughter was at the clinical trial, it's those “what ifs,” those unknowns, they felt endless. And that's kind of what gets you. And kind of echoing what Austin said, I do think the mentor program is something that I fully would have utilized and appreciated that piece from a caregiver perspective of being able to talk to somebody that's been there, done that, they understand, they can relate, and to be able to give feedback from that perspective would have meant so much at that time. Because we could read about it. We can have our doctors explain it, but it's different from talking to somebody that's had that firsthand real-life, at-home experience with it.

[Allison]
Which is why it's so important to have you guys up here, too. So thank you. You know, speaking of hearing from someone with real experience and hearing the journeys that you guys have gone through, knowing that we have only a few minutes left, what advice would you share with others in this audience that are living with NF1-PN?

[Austin]
Yeah, biggest thing is I've had to accept my own limitations, which are things I tend to challenge a lot more than I should. I think we could probably all of us with NF relate to that. One of the biggest things I love to do is going outdoors, camping, hunting, hiking, and fishing. Unfortunately, a lot of those activities aren't always the easiest with NF1-PNs. There's times to where I can do them with some limitations. There's times I can't do them at all, but I learned to manage the best I can through working with my oncologists and taking my medications.

I know what it feels like to be limited, to sit on the sidelines and to struggle with the pain, to lose out on dreams and to find new ones. Because that's what we need to do. It's one of those things we have to find our new dreams with our limitations. And the biggest thing I can say out there is to everyone, you're not alone. Your path may not look the way you imagined, but there is still future worth fighting for. There's hope out there.

[Allison]
It's wonderful.

[Kylie]
I would say that you are the architect of your own life. Your self-advocacy, it's not a disruption, it's foundation work. You know the cracks in your floors, the drafts through your windows. And the moment something doesn't feel structurally sound—keep records, ask questions. Push back when something doesn't sit right. Find the people who help reinforce the walls instead of painting over the fragments and walk away from the ones who don't listen. You are not being difficult by advocating for yourself. You're securing your future brick by brick and building a home that can move with you, not against you. Remember, it's your life. You are not being an issue by standing up for it and fighting for the one that you want to live. Even with all the changes that need to be made, it's upkeep, not destruction, and you're in charge of it.

[Allison]
100%. And Seetal, do you have any advice for the caregivers that are caring for for people out there?

[Seetal]
Yeah, it's remember to breathe. It's okay to take time for yourself. Stay active. Go for a walk. Take a bubble bath. Read a book. Make a favorite meal. It's okay to take five minutes or however long and cry. Just get it out. It's, it's okay. Those little things can make a big difference, taking time for yourself. And we've all heard it. Build a village. It's, it takes a village. You need it. It makes things so much easier to have people that you can rely on, that you can talk to them when things are getting hard, you know, and it's not just building a village of people here that understand it too, and make use of those resources that GOMEKLI has to offer and consider joining one of their support groups as well.

And aside from that, finally, it's caring for someone with NF1-PN. It's, there are some days where you just need to take it one day at a time. We'll have good days where we rarely think about the diagnosis and the symptoms and everything else going around with it. And there are some days where we are faced with the gravity of their plexiforms, and those days can be a lot to handle. But the biggest advice from that is just to take each day as it comes and just be grateful for the good ones.

[Allison]
Yeah, absolutely. That's all really wonderful advice from all of you guys. And what a great note to end on. You guys were all amazing. So let's give a round of applause to Austin, Kylie and Seetal. Thank you.

We appreciate your time today and sharing all of your experiences and advice. I know I for sure learned things from you guys. So hopefully some people in the audience did as well.

And on that note, on behalf of SpringWorks Therapeutics, thank you guys for all joining us today. It has been an absolute pleasure to present information about GOMEKLI.

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Thank you!

Learn more at GOMEKLI.com

[Allison]
And you can learn more about GOMEKLI by scanning the QR code that's up on the screen right now or visiting GOMEKLI.com

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© 2026 Merck KGaA, Darmstadt, Germany or its affiliates. All rights reserved. GOMEKLI and SpringWorks CareConnections are registered trademarks of Merck KGaA, Darmstadt, Germany or its affiliates. All other trademarks and logos are the property of their respective owners. US-GOM-00027 09/26 SpringWorks Therapeutics, Inc. is a healthcare company of Merck KGaA, Darmstadt, Germany.