What does the future look like for rare genetic epilepsies?

Research into rare genetic epilepsies is advancing rapidly, with multiple promising clinical developments that are underway. Across the industry, considerable efforts are being made to better care for people living with rare or treatment-resistant epilepsies through innovative science. At UCB, this means building a comprehensive understanding of the patient needs and the underlying causes of epilepsies, and seeking new ways to modify disease processes to improve outcomes. 

Understanding the underlying disease mechanisms 

Driving research into rare and treatment-resistant epilepsies requires us to combine our deep heritage in epilepsy with the latest technological innovations. By better understanding the molecular signatures and pathways that form the root causes of these complex diseases, it is opening up opportunities to target the underlying mechanisms that cause epilepsies.  

KCNT1-related epilepsies are a group of rare epilepsies caused by a variation in the KCNT1 gene and include epilepsy of infancy with migrating focal seizures (EIMFS) and sleep-related hypermotor epilepsy (SHE). Most children have severe developmental and intellectual disability, and their seizures are difficult to control. UCB is collaborating with Praxis Precision Medicines, focusing on potential treatments for KCNT1-related epilepsies.  This partnership aims to enhance understanding of the underlying causes of epilepsy, with a focus on exploring potential disease-modifying treatments.  

It’s all part of our focus on disease modification, acting at the root cause of a disease rather than just addressing individual symptoms. By carefully observing the whole spectrum of symptoms and understanding of how epilepsies progress, coupled with research into the disease pathobiology, we hope to identify suitable targets for disease modification.

Beyond seizure control  

The ultimate goal of our research is to find treatment approaches for people with rare genetic epilepsies who often struggle to find effective therapies and as a result, do not experience freedom from their persistent seizures. However, disease impact goes well beyond the symptomatic control of seizures and to make a meaningful impact on people’s lives we need to think more holistically about epilepsies. 

 For many people living with epilepsies, seizures are not always the primary or most impactful symptom they face in everyday life. Cognitive impairments, developmental delays, psychiatric conditions, and detrimental impacts on quality of life frequently accompany rare epilepsies yet are often underdiagnosed or inadequately treated. It’s essential that we consider these non-seizure outcomes associated with epilepsy as we seek to discover new solutions that look to improve quality of life holistically.  

Several reports presented during this year’s American Epilepsy Society Congress (AES) focused on the relationship between sleep and epilepsy. A retrospective observational analysis found sleep apnea comorbidity is an important and potentially actionable factor associated with increased mortality in children and young adults with severe epilepsy. Traditionally sleep is assessed in a clinical setting using an elaborate electrical signal setup (EEG, ECG, EMG, EOG) * and respiration measurement. One study presented at AES found that sleep can be reliably assessed from a behind-the-ear EEG montage in an automated way in both healthy subjects and patients with Dravet Syndrome. The ability to assess sleep in a non-intrusive way has great potential to detect sleep-related co-morbidities associated with Dravet syndrome.

By better understanding the holistic challenges that the community faces we can drive advancements in how rare epilepsies are treated, with the full perspective of the patient and their family in mind. 

A glimpse into the future 

As we look to the future, it’s vital that we continue to raise awareness of rare epilepsies, partly due to the vast number of patients undiagnosed, but also to create a more supportive environment for all those living with these debilitating conditions.  

The future of epilepsy research, particularly for rare genetic epilepsies, is promising. By focusing on new modalities, developing novel disease-modifying treatments, addressing comorbidities, and leveraging advanced technologies, we hope to find a way to not only control seizures but also improve overall quality of life for those living with epilepsies and their families. As our understanding of the epilepsy spectrum grows, so does the potential to explore new approaches that could change the course of rare epilepsies.  

For more information about epilepsy, visit Epilepsy & Rare Syndromes at UCB. 

* EEG (Electroencephalogram) measures electrical activity in the brain. ECG (Electrocardiogram) monitors heart rhythms and electrical activity. EMG (Electromyography) assesses muscle response. EOG (Electrooculography) tracks eye movements.