miRNAs expression and gut microbiota composition as potential biomarkers for Dravet Syndrome

Dravet Syndrome (DS) is a rare and severe form of developmental and epileptic encephalopathy with a wide range of symptoms’ severity and responses to treatment. This variability makes it challenging to predict how the disease will progress or how well a patient will respond to therapy. This study explores whether two biological factors—microRNAs (miRNAs) and the microbiota-gut-brain axis (MGBA)—could serve as biomarkers to better understand and manage DS. miRNAs are small RNA sequences that regulate gene activity, while the MGBA describes the connection between gut bacteria and brain function. Both have shown potential in research on epilepsy and other neurological conditions, but their role in DS is not yet clearly established by clinical data. Thus, we will conduct an observational study. We will collect blood and stool samples from DS patients to analyze miRNA levels, gut bacteria composition, inflammation, and metabolic profiles. For patients starting a new treatment, we will collect samples before and three months after treatment begins, as well as during any significant event. Patients on stable treatments will serve as a comparison group, and non-epileptic individuals will provide control data. This research is the first step toward identifying biological patterns linked to DS variability in presentation and treatment responses. If successful, it could lead to new tools for personalizing treatment, improving outcomes, and developing new therapies for DS.