We are pleased to announce that two inventions entitled “Panel of predictive markers, method for predicting the occurrence of drug-resistant epilepsy in girls aged up to 24 months with tuberous sclerosis and use of a panel of markers in this method” and “Panel of markers for predicting the occurrence of epilepsy relapses in patients with tuberous sclerosis, in vitro method for predicting the occurrence of epilepsy recurrence in patients with tuberous sclerosis and use of a panel of markers in this method” have been granted patent protection in Poland (patents no. Pat.249504 and Pat.249505).

The co-owners of the patents are: Nencki Institute of Experimental Biology, Medical University of Warsaw, International Institute of Molecular and Cell Biology in Warsaw, and The Children's Memorial Health Institute. The inventors are: Dr Adria-Jaume Roura Canalda, Dr Bartłomiej Gielniewski, Prof. Jacek Jaworski, Prof. Sergiusz Jóźwiak, Prof. Bożena Kamińska-Kaczmarek, Prof. Katarzyna Kotulska-Jóźwiak, Dr Ewa Liszewska, and Dr Bartosz Wojtaś.

The first patent protects the RNA biomarker panel enabling the prediction of drug-resistant epilepsy in girls up to 24 months of age with Tuberous Sclerosis Complex (TSC) prior to the onset of the first epileptic seizures, as well as an in vitro method for predicting epilepsy.

Early identification of drug-resistant epilepsy is crucial for implementing more intensive treatment and preventing neurological complications and intellectual disability. Currently, however, there is a lack of molecular markers that would allow prediction of the nature of future epilepsy in TSC patients before the onset of the first seizures. Existing diagnostic methods are primarily based on clinical observation and neuroimaging, which do not allow reliable prediction of disease progression at an early stage.

The patented solution enables the determination of the risk of drug resistance based on gene expression analysis of the patient’s blood using methods such as qRT-PCR, ddPCR, or RNA sequencing (NGS).

The second patent, in turn, protects the RNA biomarker panel enabling the prediction of epilepsy recurrence in patients with TSC after discontinuation of antiepileptic drugs, as well as a method for using this panel for  in vitro diagnostics.

In many patients, epileptic seizures can be controlled pharmacologically, however, after a period of remission and discontinuation of antiepileptic treatment, approximately 50% of patients experience a recurrence of the disease. At present, there are no reliable molecular markers that would allow prediction of the risk of seizure recurrence after treatment withdrawal. In clinical practice, decisions to discontinue medication are made primarily based on clinical observation and physician experience, which carries the risk of unnecessarily exposing patients to disease relapse.

The patented solution enables prediction of the risk of seizure recurrence based on the analysis of the expression levels of specific RNA markers in the patient’s blood prior to treatment discontinuation. The marker panel includes the genes P2RY13, IL13RA1, and PDE4B, whose reduced expression levels correlate with an increased risk of epilepsy recurrence.

The research leading to these inventions were funded by the STRATEGMED3/306306/4/NCBR/2017 grant entitled “Application of novel methods for the diagnosis and treatment of epilepsy and neurodevelopmental disorders in children based on a clinical and cellular model of mTOR pathway-dependent epilepsy (EPIMARKER)”, under the STRATEGMED program of the National Centre for Research and Development.