Precision treatments for rare epilepsies Sample Clauses

Precision treatments for rare epilepsies. In recent years, progress in next generation sequencing (NGS) techniques has led to identification of several mutations, particularly de novo mutations, which cause many severe epilepsy syndromes with onset in early age. Elucidation of the underlying epileptogenic functional abnormalities, which can be corrected with targeted treatments (Xxxxxx, 2017), often using repurposed drugs (Mirza et al, 2017). Precision treatments targeting severe genetic epilepsies and identified by the survey as priorities for testing include quinidine for gain-of-function KNCT1-related early onset epileptic encephalopathies, memantine for GRIN2 related encephalopathies and ASO (or gene) therapies for Dravet syndrome. Table 1. List of candidate treatments to be prioritized for clinical trials based on responses received in the survey conducted among EpiCARE members. Candidate treatment Target indication/population Suggested trial design ACTH (i.m.) Continuous spike-wave in sleep (CSWS) Steroids (oral) Anakinra Dravet syndrome (tonic-clonic seizure clusters) Exploratory Brivaracetam Juvenile myoclonic epilepsy (JME) Controlled versus valproate Bromides Dravet syndrome Add-on controlled vs placebo Cannabidiol Angelman s. (myoclonic seizures) Controlled add-on vs placebo Cannabidiol Hypothalamic amartoma Exploratory Cannabidiol CSWS Cannabidiol Focal seizures Exploratory Cannabidiol Juvenile myoclonic epilepsy Add-on controlled vs placebo Cannabidiol Ring chromosome 20 s. Exploratory Cannabidiol Refractory epilepsy in adults Controlled add-on vs placebo Cannabidiol plus THC Dravet and Lennox-Gastaut syndrome Add-on controlled vs cannabidiol alone Carbamazepine Neonatal seizures Exploratory Disease modifiers (e.g. ASOs, gene therapy) Dravet syndrome Controlled (type of control to be discussed) Everolimus (suggested by 3 responders) Refractory focal epilepsy due to non-surgically treatable cortical dysplasia (e.g. type 2 FCD) Exploratory or controlled add-on vs placebo Everolimus (or other mTOR inhibitors) (2 suggestions) Epilepsies related to mTOR pathway mutations Controlled add-on vs placebo Fenfluramine Refractory epilepsy in adults Controlled add-on vs placebo Focused ultrasound Hypothalamic hamartoma Exploratory Ketamine Encephalopathy with refractory CSWS Controlled add-on vs standard of care Ketogenic diet Eyelid myoclonias with absences Controlled versus standard therapy (valproate, levetiracetam, ethosuximide) Ketogenic diet Ring chromosome 20 syndrome Exploratory Laser abla...