stxbp1 encephalopathy with epilepsy

Epilepsy clinical trials increasingly focus on treatment-resistant epilepsy (TRE) — defined as failure of two adequate antiseizure medication (ASM) trials — where one-third of patients remain uncontrolled. Genetic stratification has driven trials in specific epilepsy syndromes (Dravet, Lennox-Gastaut, SCN1A, KCNQ2) where disease-modifying gene therapy approaches are now being tested.

Active trials investigate fenfluramine for treatment-resistant focal epilepsy, KCNQ2/SCN1A antisense oligonucleotides, sodium selenate for progressive myoclonic epilepsy, novel mTOR inhibitors for TSC-related epilepsy, and responsive neurostimulation (RNS). Seizure frequency and seizure-free rates remain primary endpoints, with ESES and status epilepticus trials gaining traction.