Lennox-Gastaut syndrome (LGS), Dravet syndrome (DS), and tuberous sclerosis complex (TSC) are rare and complex forms of epilepsy that are typically identified in children, continue into adulthood, and are characterized by recurrent, severe, and treatment-resistant seizures. These conditions and their associated seizures often result in neurodevelopmental delays, including the loss of cognitive, executive, and emotional function, language setbacks, sleep problems, attention deficit and diminished physical functioning.1,2,3 Approximately 1 million people living with epilepsy in the U.S. are resistant to current treatments, with an estimated 120,000 of those being pediatric patients.4,5
We tirelessly seek to better understand and address unmet patient needs for complex and often underrecognized neurologic disorders. Our work to develop innovative treatments for seizures associated with rare epilepsies such as LGS, DS, and TSC has revealed the depth of the challenges facing the community. While progress has been made in developing novel treatments and increasing awareness of rare epilepsies, expert recommendations from experienced specialists are valuable for optimizing therapy and guiding healthcare professionals who have less experience with these conditions.
Recently, a Jazz-supported manuscript was published in the journal Epilepsia Open establishing consensus-based recommendations for optimizing treatment in people with seizures associated with LGS, DS, and TSC. The recommendations are based on the collective insights of an advisory panel of seven epilepsy specialists with expertise in diagnosing and treating seizures associated with these rare epilepsies. The advisory panel aligned on two broad themes: overcoming barriers to treatment initiation and refining treatment strategies.6
First and foremost, the panel agreed overcoming barriers to treatment requires early and accurate diagnosis for all patients with treatment-resistant epilepsy, both pediatric and adult. Once an accurate diagnosis is established, healthcare professionals should assess any existing comorbidities and other medications a patient may be taking to determine treatment initiation. The panel provides recommendations for individualized dosing strategies, including the potential impact of food intake. Additionally, physicians should monitor for and manage potential adverse events and track their patients’ treatment outcomes.
Ultimately, consensus treatment recommendations are intended to inform clinical decision-making by providing expert-led perspectives for clinicians seeking to enhance care for those with rare and treatment resistant epilepsies. The recommendations provide real-world context to support diagnosis, dosing strategies, adverse events monitoring, and polypharmacy considerations. When equipped with robust evidence to inform clinical decisions, physicians are empowered to optimize patient outcomes for those with these complex conditions.
We are committed to educating healthcare professionals and patients about these conditions. Our dedication extends beyond education and clinical development – we actively engage with healthcare professionals and patients in the real-world to help improve the lives of the people we serve.
Establishing expert consensus recommendations on treatment is imperative in our mission to support the medical community in creating the best outcomes for our patients and their families.
Learn more about the rare forms of epilepsy here.
1. LGS Foundation. About Lennox-Gastaut Syndrome. Available at https://www.lgsfoundation.org/about-lgs-2/what-is-lennox-gastaut-syndrome/. Accessed June 2024.
2. Dravet Syndrome Foundation. What is Dravet Syndrome? Available at https://www.dravetfoundation.org/what-is-dravet-syndrome/. Accessed July 2024.
3. TS Alliance, What is TSC? https://www.tsalliance.org/about-tsc/what-is-tsc/. Accessed June 2024.
4. Centers for Disease Control and Prevention. Epilepsy Data and Statistics. Available at: https://www.cdc.gov/epilepsy/data/index.html. Accessed June 2024.
5. Epilepsy Foundation. Drug-Resistant Epilepsy. Available at: https://www.epilepsy.com/treatment/medicines/drug-resistant-epilepsy. Accessed July 2024.
6. Wechsler R, Burdette DE, Gidal BE, et al. Consensus panel recommendations for the optimization of EPIDIOLEX® treatment for seizures associated with Lennox-Gastaut syndrome, Dravet syndrome, and tuberous sclerosis complex. Epilepsia Open. 2024;00:1-11. https://doi.org/10.1002/epi4.12956
