Refractory epilepsy, the “suspended lives” of patients insensitive to drugs –

Refractory epilepsy, the “suspended lives” of patients insensitive to drugs –

2023-09-16 07:15:48

by Adriana Bazzi

For the thirty percent of patients who suffer from epilepsy that cannot be controlled with drugs, new therapies are appearing that reduce attacks. And the search continues

70 percent of epileptic patients, thanks to drugs and, where practicable, surgery (each country has different approaches in this field), are seizure-free. Today, in the Western world. But there are 30 percent of people who are not because they suffer from forms of epilepsy that are “refractory” to treatment: their lives are “suspended” always waiting for the unpredictable event.

Stopped for years

For them, nothing has changed for decades, despite the number of drugs that have gradually become available (today there are at least thirty on the market). All these molecules have certainly improved the quality of life of that 70 percent of patients, but they have not yet managed to help the remaining 30 percent. And it is on these situations that the eyes of the researchers, gathered in recent days in Dublin for the 35th International Epilepsy Congress, are focused. With the idea of ​​finding and proposing new solutions. In fact, since the English doctor Charles Locock published a work in the English journal Lancet in 1857 that demonstrated the effectiveness of potassium bromide in the treatment of epilepsy, dozens of other drugs have become available, but none of these To date, it has definitively freed thirty percent of patients from crises. The percentage has remained constant over time. It should be noted, among other things, that today we no longer talk about “antiepileptic” drugs, but about “anti-seizure” drugs. In fact, we are talking about drugs that act on the symptoms and not on the disease, the causes of which are still the subject of research (including the genetic origins of the disease, especially with regard to certain rare forms).

A promising drug

We speak of refractory epilepsy when at least two drugs do not work in controlling the seizures. We talk about ultrarefractory epilepsy when there are as many as six ineffective drugs. This means, in fact, that patients live “waiting” for the crisis. But a novelty presented at the Dublin Congress represents a step forward in the control of refractory epilepsies, currently in adult patients. The name of the drug is cenobamate. According to the clinical studies presented there, the drug, already on the market, has proven useful in reducing seizures in patients with refractory epilepsy. Rhys Thomas, neurologist at New Castle University in New Castle, UK, comments: «With our retrospective studies with the drug evaluated in the real world (i.e. in the real life of the patients, ed.) we have shown that the drug reduces attacks by 99 percent and sudden death events. The therapy presupposes careful monitoring of the doses administered, which must be carefully monitored, and of the side effects (which are not few, ed.)”. The therapy is indicated in patients who have focal seizures of epilepsy and holds promise for the future.

The consequences on lives

In Italy, 1 percent of the population suffers from epilepsy. Which means 600 thousand people, more or less. And 30 percent are refractory to treatment: doing the calculations, there are 180 thousand. There are approximately 50 million people affected by this disease worldwide. Without going into too much detail about the statistical data (the studies exist and are easily available online) it can be said that for patients with refractory epilepsy, first of all, life expectancy is reduced: they live ten years less than others, as underlined at Dublin conference Patrick Kwan, neurologist at Monash University in Melbourne, Australia. They may suffer sudden death more than others. In addition, they suffer from intellectual disabilities and psychiatric disorders (anxiety, depression and suicide). In any case they must be assisted 24 hours a day. Obviously they have difficulty finding work. They often also have difficulty accessing healthcare systems and face significant economic problems (including those of caregivers).

Get to the diagnosis early

There is, however, an underlying problem. In any case, whatever the form of epilepsy that affects a patient (to simplify: there are tonic-clonic ones which involve classic convulsions, those characterized by absences – that is, the person suddenly becomes unconscious -, those generalized to the point of of epileptic disease), the important thing is to arrive at a correct diagnosis as soon as possible and start adequate treatment as soon as possible. «Time is brain» say the experts: that is, the more time passes before diagnosis, the more brain faculties are lost. «In twenty percent of cases the diagnoses are wrong – comments Laura Tassi, President of Lice, the Italian League against Epilepsy and epileptologist at the Center for Epilepsy Surgery at the Niguarda Hospital in Milan – that is, situations are labeled as epilepsy which are not, but are linked to other conditions. First of all, it is necessary to interpret the symptoms well and also arrive at personalized therapies for epileptic patients. In any case, the peak of diagnoses occurs in early childhood and then in old age.” Today technology comes to the rescue: new helmets have become available, equipped with a large number of sensors, which allow the EEG (electroencephalogram) to be recorded even for long periods and software which allows interference to be eliminated from the EEG traces. that make it dirty and, therefore, to have a “clean” exam. All these systems not only aim to improve diagnosis, but also promise to improve therapy monitoring. «“But at the moment, in the evaluation of therapy – specifies Tassi – we are still based on the reduction of crises and the monitoring of side effects”.

Genetics and epilepsy

Today we are witnessing a real explosion of research on the genetics of epilepsy. «The mutations could guide the choice of drugs and possibly lead to thoughts of genetic therapies which, however, are still in the high seas – specifies Tassi -. We are not just talking about mutations linked to rare diseases which also have epilepsy as an expression, but about mutations which occur in the general population and are linked to this pathology, which are more difficult to interpret”. Developments in this field could lead to increasingly personalized therapies. Already today, based on certain mutations that concern rare diseases with epilepsy, it is possible to resort to specific drugs (fenfluramine) and

ketogenic diets. Which work.

The voice of patients

There is another problem with epilepsy sufferers: that of stigma. It exists in Italy and Europe, let alone in other continents such as Africa or Asia (where information programs such as Purple Day in Asia are in place, active in many countries to raise awareness on the topic). Says Francesca Sofia, president of the International Bureau of Epilepsy (Ibe), an umbrella that brings together associations from all over the world: «There are fifty million people with epilepsy in the world, but it is difficult for these patients to have a voice». First because they themselves tend to hide the disease. «A stigma persists here too: people don’t want to declare their condition – continues Sofia – and this doesn’t contribute to awareness, i.e. the spread of knowledge of the disease. and to what, in any case, is a civil battle.” It is important, in fact, that patients whose illness is controlled by therapy come out to help others, i.e. the “pending patients”, those who cannot control their crises and need attention. «We need to change the culture – says Sofia – and give a voice to people with epilepsy: otherwise they disappear». It is essential that these people are involved in clinical trials, in the tables that concern the approval of drugs on the boards of pharmaceutical companies. It’s called scientific citizenship. Because science is also done by citizens, as is happening in other fields of medicine. Cancer first and foremost.

September 16, 2023 (changed September 16, 2023 | 07:15)

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