BACKGROUND

Epilepsy is one of the most common neurological diseases, affecting at least 1% of general population. Despite the availability of many anti-seizure medications (ASMs), about one-third of patients with epilepsy are drug-resistant and suffer from poor quality of life, increased risk of mortality, and disabling psychosocial consequences with a significant healthcare impact. In clinical practice, there still do not exist one or more biomarkers specifically predictive of response/resistance to medications. Therefore, clinical outcomes could be improved by identifying and characterizing molecular biomarkers that could assist epileptologists in identifying early those patients who will become drug-resistant and could benefit from earlier referral to alternative therapies, such as epilepsy surgery, neurostimulation or dietary regimens.

STUDY PURPOSE

The aims of the study are:

1) evaluate and compare the neuroinflammatory profile and the microRNA expression obtained from the serum of patients with drug-resistant epilepsy (DRE), patients with drug-responsive epilepsy, and healthy controls, to test for potential differences;

2) evaluate and compare the gut microbiota (GM) composition obtained from fecal samples of patients with DRE, patients with drug-responsive epilepsy and healthy controls, to test for potential differences;

3) compare the neuroinflammatory profile, the microRNA expression profile and the GM’s composition in patients with epilepsy and healthy controls, in order to ascertain potential differences related to the disease itself rather than drug responsiveness.

STUDY DESIGN

A prospective case-control study will be performed. Subjects with drug-resistant epilepsy from at least 1 year, patients with drug-responsive epilepsy from at least 1 year, and healthy controls, will be enrolled.

Subjects will be recruited from patients attended the S. Maria della Misericordia University Hospital of Udine. 

EXPECTED RESULTS

We expect to identify potential serum, fecal and epigenetic biomarkers, early indicators and predictors of pharmaco-resistance in epileptic patients, as well as different gut microbiota composition between epileptic patients and healthy subjects.

We expect that the identification and characterization of specific predictive biomarkers of pharmaco-resistance could help clinicians (especially epileptologists) to choose the best therapy (pharmacological or not) early for each patient.