Rare Childhood Epilepsies: Dravet Syndrome and Lennox-Gastaut Syndrome - Episode 9
Elizabeth Thiele, MD, PhD, and Elaine C. Wirrell, MD, explain how community neurologists can work with academic center to treat patients with Dravet or Lennox-Gastaut syndromes.
Elizabeth Thiele, MD, PhD: We’re both in tertiary referral centers and specialized in pediatric epilepsy. If you look at the number of antiseizure medications, we’ve had around 15 in 20 years. How could we give advice? I tell my families that I don’t even know how to treat migraine anymore, I’m so super-specialized. There are a lot of patients living in areas that don’t have access to this, and a lot of physicians practicing in areas that don’t. How do you think we, as academic epileptologists, can work with the community neurologists so they have an improved level of comfort of not only how to use these treatments, but how to recognize these syndromes?
Elaine C. Wirrell, MD: It’s a good question. You make a good point that we, I don’t want to say have to learn about just epilepsy, but we do, we need to be uber-focused on epilepsy. For the community neurologists, it‘s much more challenging because they have to know about a lot more stuff than we do. The community neurologist is super important for so many of my children because as you said, they do live in smaller communities, and when they get in trouble, or when they go into status epilepticus, they need to have somebody in their community who can help them through that. The other thing I would say about the children with the developmental and epileptic encephalopathies is, in addition to having a community neurologist, which is super important, it’s also important for them to be seen in a specialist epilepsy center so they can have access to cutting-edge therapies, they can potentially enroll in some of the up-and-coming clinical trials on the precision therapies.
What works best is a partnership, and we do that. For most of my patients it’s a partnership, they have a home community neurologist for those patients who live a distance away, and that person follows them, that person does the safety checks. That person is there if they get into trouble from a clinical standpoint, but then the patients will come in and see me, and we’ll talk about the therapies. And then, it’s pulling in the community neurologist and discussing if they have any questions about some of these new therapies, making sure they understand the adverse effects to monitor. That way, they get the chance to use some of these new therapies early in a setting where they are partnering them with one of the pediatric epileptologists who have more experience in using these. If you’re a community neurologist, you may see, 1 or 2 children with Dravet syndrome in your practice; you or me, we have 30 or 40 children with Dravet in our practice. We can amass that experience with these new therapies much more quickly. That partnership is important.
Elizabeth Thiele, MD, PhD: I agree. I was hopeful that was going to be a positive outcome, if there could be, from the COVID-19 pandemic, the fact that during the active pandemic, we were able to do more telemedicine, including seeing new patients out of state. That’s been more restricted, at least in this area since then, but I’m hopeful that sowed a seed of change, because in my view of the world of pediatric epilepsy, we are uber-specialized. And if a child had an onset of seizures, if they could be seen even virtually by a pediatric epileptologist to help make the diagnosis and the treatment recommendations, that could save that child a lot of time and a lot of seizures. Both of us often see patients who come in to see us as a third or fourth opinion, for whom maybe the right diagnosis hasn’t been made, the right medications, or the right doses haven’t been used. I agree that partnership is important.
Do you have any other comments that you would want to make about what we‘ve talked about today? It’s exciting to have these new medications. We’re in the era of possible genetic therapies for these disorders, and I think that will and is expanding to other disorders as well. The future is bright; it can be brighter. Any comments?
Elaine C. Wirrell, MD: Looking to the future, we have some nice data on what does LGS [Lennox-Gastaut syndrome] look like in adulthood, and what does Dravet syndrome look like in adulthood, which is pretty depressing. I hope we’re going to be able to change that, and by these early precision therapies, that we’re going to be able to change the outcome. If we can identify these children young, and we have an effective therapy, the earlier we use it, [the better the outcome]. Yes, there is an impact of the underlying channelopathy or etiology of what we call the developmental encephalopathy that maybe you can’t fix with improving seizure control. But many of these children do also have an epileptic encephalopathy component, and the quicker we can control seizures, and the better we can do that, we can improve the children’s development.
Elizabeth Thiele, MD, PhD: I agree. We think, especially in tuberous sclerosis, can we prevent, since we often diagnosis children before they even develop seizures, can we prevent the seizures from happening? With quicker diagnosis of many of these things, we’re going to be able to make a big impact. Your point about adults is a good one, because that is true in our adult colleagues, especially now with FDA-approved medications. Although I’m having good luck getting them approved off-label, many places are not. What if I was a 40-year-old with refractory seizures all my life, and I had Dravet syndrome, but no one really knew that? There is increasing awareness in the adult epilepsy community about LGS, and now about Dravet, but it is important. The Dravet Syndrome Foundation and the LGS Foundation, those are concerns they have, about how can we help identify adults living with these disorders, now that we do have FDA-approved and more effective treatments for them? That’s a great point. We’ve been looking at this, other people are looking at this, but I know of people with Dravet in their 50s, 60s, and 70s, who have even at that point shown improvement with access to these newer medications. So it’s important. Do you have any other comments about anything?
Elaine C. Wirrell, MD: We still have a fair bit of work to do for the adults with these conditions, many of whom have not yet been diagnosed, precision wise, and many of those patients will also benefit from these newer therapies.
Elizabeth Thiele, MD, PhD: I agree. As you said earlier about CBD [cannabidiol], I believe that fenfluramine is going to end up being fairly broad spectrum and effective outside of its FDA-approval indication. Both of those medications are going to play a very important role in our toolbox, or armamentarium. For both of them, the safety and tolerability profile is far superior to many of our other medications. I’ve been excited, I think you have been too, to have been part of the development of both of these therapies. They are improving the lives of our patients. I’m also glad that there are these different antiseizure medications in the pipeline, because even with medications we have, even the new ones, there’s still an unmet need for safe, well-tolerated, and effective medications in epilepsy. We need more, we can take them, as long as we can keep figuring out when to use what, how, when, and where.
Do you have any other comments? This has been fun talking with you about this. I know you and I both think about Dravet and LGS a lot. It’s always fun to get together with someone and talk about experiences, and our patients, and our excitement about where things are going in these fields and other areas of pediatric epilepsy.
Elaine C. Wirrell, MD: I agree. It’s been an exciting time and lovely to chat with you about this. I could chat about this for hours.
Elizabeth Thiele, MD, PhD: Elaine, thank you very much. Thank you for taking the time to do this. It’s great seeing you as always, great having this conversation. I’d like to also thank the audience. Thank you for watching this NeurologyLive® Peers & Perspectives. If you enjoyed the content, please subscribe to our newsletters to receive upcoming programs and other great content in your inbox.
This transcript has been edited for clarity.