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Making epilepsy treatment more personalised

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Date Published: April 11, 2024

Author: Natalie Powell

A third of people with epilepsy are unable to control their seizures with existing anti-seizure medications. We need advanced treatment options to not only control these seizures, but to understand how to treat the epilepsy at its root cause. In this feature, we highlight the potential of tailor-made treatments and look at research currently taking place to ensure everyone can live a life free from epilepsy.

Though everyone with epilepsy is treated as an individual, this individuality can be a double-edged sword. This is because two people being treated in the same way for the same type of epilepsy can have wildly different experiences, with different degrees of seizure control or side effects.

Given the diversity of epilepsy, and the diversity of people with epilepsy, both combine to present significant challenges to clinicians when prescribing the best treatment. Add to this that one in three people living with epilepsy can’t control their seizures with standard anti-seizure medication and you quickly understand the scale of the challenge. .

But this also presents a great opportunity – to develop and test therapies which are tailored for individuals and ultimately help more people live a life free from epilepsy. Advanced Therapeutics & Disease Modification is one of the Institute’s key research themes. By driving investment in research to understand the underlying mechanisms of the condition, we will develop new ways to diagnose and treat epilepsy, in all its forms, for all people.

In this Feature we highlight some examples of this work and its potential.

Studying the genes involved in early-onset epilepsy

Ceri Pickering is an Epilepsy Research Institute-funded PhD student working on Developmental and Epileptic Encephalopathies (DEEs), a group of conditions which affect children from a young age.

Although DEEs can be resistant to standard anti-seizure medicines, treatment with gene therapies holds great promise. To help achieve that ambition, Ceri is studying the genes involved in DEEs, and why different people with mutations in the same gene can have very different symptoms. Speaking in the Spring 2023 issue of Focus, Ceri said, “I hope that building on this area of research to better understand and predict the consequences of individual genetic variants will elucidate effective therapeutic targets, and therefore harness the potential of personalised medicine.”

A new therapy to counteract a novel cause

Many people with epilepsy experience problems with sleep. While trying to understand the link between the two, scientists discovered a potentially new cause of epilepsy called ‘ER stress’, resulting from problems with the transport of proteins inside cells. To study ER stress further, Dr José Prius Mengual was awarded a fellowship in 2023 co-funded by the Institute and the Nucleic Acid Therapy Accelerator (NATA). He hopes to develop a nucleic acid therapy which could counteract ER stress and provide another treatment option to control seizures.

“My innate curiosity and drive to improve things have motivated me to develop a project focused on genetic therapies that will ultimately result in better clinical interventions and aim to significantly improve the lives of people affected by epilepsy,” says Dr Mengual.

The potential of truly individualised medicine

Nucleic acid therapies like the one Dr José Prius Mengual hopes to develop – based upon synthetic molecules of DNA or RNA – have huge potential for treating some forms of epilepsy. One example of this potential from outside the world of epilepsy is the inspiring story of a girl called Mila, who had a rare form of a fatal condition called Batten disease. In 2017, neurologists in Boston developed an experimental nucleic acid therapy, designed solely for Mila based upon the mutation she carried. The drug improved Mila’s symptoms significantly and helped her live for another four years.

Mila’s story also proved to researchers it was possible to create a tailor-made treatment for just one individual – the pinnacle of ‘personalised medicine’.

“The era of precision, personalised medicines is upon us”

Developing treatments that efficiently control seizures, with minimal side effects, is a key priority for everyone with epilepsy. To do this, we need to create a range of treatment options, based upon a solid understanding of the causes of different forms of epilepsy.

The Epilepsy Research Institute is driving investment to radically advance research into this area and ensure that people with epilepsy benefit from personalised medicine sooner.

As Professor Nick Lench, a trustee of the Epilepsy Research Institute and Executive Director of NATA, says: “The ‘one size fits all’ paradigm of drug development is no longer valid; the era of precision, personalised medicines is here to stay.”

Learn more about the “Advanced Therapeutics & Disease Modification” theme, one of six key themes of the Epilepsy Research Institute’s work. If you’d like to support this vital research, find out how you can get involved here.