RNA Marker Panel for Predicting Epilepsy Recurrence in Tuberous Sclerosis
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Solution Overview
Problem
Current treatments for epilepsy in patients with tuberous sclerosis complex (TSC) often result in drug-resistant seizures, and there is no reliable method to predict epilepsy recurrence after antiepileptic drug withdrawal, leading to unnecessary exposure to medication side effects and recurrence stress for patients and caregivers.
Innovation Solution
A panel of RNA markers, including P2RY13, IL13RA1, PDE4B, and optionally PTGS2, RGCC, PPP1R3F, TLE2, LZTS3, SERINC3, TMEM238, is used to predict epilepsy recurrence by measuring their expression levels in peripheral blood before drug withdrawal, allowing for informed decision-making on treatment continuation.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Object-affected harmful factors
If antiepileptic drugs are withdrawn after achieving seizure control, then patients can avoid long-term medication side effects and improve quality of life, but approximately 50% of patients experience epilepsy recurrence
Solution Approach 1:
The patent applies preliminary action by measuring RNA marker expression levels in peripheral blood before antiepileptic drug withdrawal to predict future epilepsy recurrence. The panel of markers (including P2RY13, IL13RA1, PDE4B, and others) is assessed in advance, allowing clinicians to identify high-risk patients who should maintain treatment and low-risk patients who can safely discontinue medications, thereby preventing recurrence before it occurs.
2Reliability
If antiepileptic drugs are continued long-term, then epilepsy recurrence is prevented, but patients are exposed to unnecessary medication side effects and treatment stress
Solution Approach 1:
The patent extracts the predictive information needed for decision-making by measuring specific RNA marker expression levels in peripheral blood. The marker panel serves as a diagnostic tool that separates patients into high-risk and low-risk groups, allowing the extraction of only those patients who truly need continued long-term treatment, while enabling safe discontinuation for low-risk patients.
3Ease of operation
If drug withdrawal is attempted without predictive markers, then treatment can be simplified, but patients and caregivers experience recurrence stress and may need to resume treatment
Solution Approach 1:
The patent implements feedback by using RNA marker expression levels to provide predictive information about future epilepsy recurrence risk. This feedback mechanism allows clinicians to make informed decisions about drug withdrawal, providing patients and caregivers with advance knowledge of recurrence risk before withdrawal occurs, thereby reducing stress and enabling better treatment planning.
Data Source
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AI summary
The subject of invention is a panel of RNA markers for the prediction of the occurrence of epilepsy recurrence following drug withdrawal in patients with tuberous sclerosis, characterised in that it comprises following markers P2RY13, IL13RA1, PDE4B. Another subject of the invention is an in vitro method to predict the occurrence of epilepsy recurrence following drug withdrawal in patients with tuberous sclerosis, comprising the steps of: a) Measurement of the expression level of a panel of predictive markers prior to drug withdrawal; b) Determination of the risk of epilepsy recurrence based on the level of the of markers from prediction panel, characterised in that said panel of predictive markers is a panel of RNA markers comprising P2RY13, IL13RA1, PDE4B, and the determination of the risk of epilepsy recurrence after drug withdrawal is based on altered levels of at least two predictive markers of the said panel compared to a reference level. Another subject of the invention is a use of a panel of markers according to the invention, for predicting the epilepsy recurrence following drug withdrawal in patients with tuberous sclerosis according to the method according to the invention.