Study Using PET-MRI to Examine Serotonin Brainstem Pathways in Adults With Dravet Syndrome and Drug-Resistant Focal Epilepsy

What this Trial Is About

Dravet Syndrome DS is a severe neurodevelopmental disorder caused mostly by mutations in the SCN1A gene, leading to frequent, drug-resistant seizures, cognitive deficits, and a high risk of sudden unexpected death in epilepsy SUDEP. SUDEP is a major cause of premature death in epilepsy patients and is linked to seizure frequency and brainstem dysfunction. This study aims to investigate serotonin 5HT pathway alterations in the brainstem of adults with DS using PET and MRI imaging to better understand SUDEP mechanisms. The study will include 20 adult participants 10 with confirmed Dravet Syndrome, 10 with drug-resistant focal epilepsy, and 10 healthy adults. All participants will undergo PET-MRI imaging with injection of the tracer 18F-MPPF to assess the serotonin brainstem pathway. The imaging involves anatomical MRI scans followed by a 90-minute dynamic emission scan after tracer injection. Women of childbearing potential will have a pregnancy test before imaging. Participants will have one inclusion visit for eligibility review and clinical examination, followed by the PET-MRI scan scheduled within 2 to 8 weeks. Researchers will compare brainstem serotonin receptor binding between groups and relate imaging findings to central sleep apnea duration and brainstem volume. The study will measure the signal-to-noise ratio of 5-HT1A receptor binding in healthy controls and monitor safety throughout. Each participants involvement lasts from 2 to 8 weeks.

A PET-MRI Study of Serotoninergic Brainstem Pathway in Patients With Dravet Syndrome