SCN2A ASO – (CIRM/California Institute for Regenerative Medicine) – Investigator-initiated, open-label, single center, single participant (n=1) clinical trial of an allele-selective personalized investigational antisense oligonucleotide (ASO) drug for SCN2A associated neurological disorder (NCT06314490). Active
TUBB4A ASO – Investigator-initiated antisense oligonucleotide treatment for TUBB4A‑related leukodystrophy. Active
HARMONY registry – A Repository for Hereditary and Rare Neurological Genetic Disorders. Active – Enrolling
HORIZON 4 HPDL – (NIH-NCATS)- 4-hydroxymandelate for HPDL deficiency, a novel mitochondrial encephalopathy: A natural history study. Active – Enrolling
A novel platform to rescue neurodevelopmental disorders caused by haploinsufficiency (CIRM/California Institute for Regenerative Medicine). Active – Enrolling
Network Analysis Intracranial EEG – EEG network analysis in medically refractory epilepsy patients ages 7 years and above with non-lesional brain MRIs and epilepsy surgery evaluations with intracranial monitoring by stereotactic depth electrodes and/or grids. Active – Enrolling
PRAXIS 222-311 | ASO (EMBRAVE 3) – A Multi-Center, Single-Arm Clinical Trial to Investigate the Efficacy and Safety of Elsunersen in Pediatric Participants with Early Onset SCN2A Developmental and Epileptic Encephalopathy. Active – Enrolling
PRAXIS 562 – 311| oral small molecule DEE (EMERALD)– This Phase 3 multicenter, double-blind, randomized, placebo-controlled clinical trial, followed by an open-label extension, is designed to explore the efficacy, safety, tolerability, and pharmacokinetics of relutrigine when administered to participants who have seizures associated with DEEs. Active –Enrolling
UCB Staccato DEE inhaled abortive (Epo162) – A Double-Blind, Randomized, Placebo-Controlled, Multicenter, Outpatient, Parallel-Group Study to Assess the Efficacy and Safety of Staccato Alprazolam in Study Participants 12 years of Age and Older with Stereotypical Prolonged Seizures. Active – Enrolling
UCB Staccato DEE inhaled abortive OLE (Ep0165) – An Open-Label, Multicenter, Outpatient Extension Study To Evaluate The Safety And Tolerability Of Staccato Alprazolam In Study Participants 12 Years Of Age And Older With Stereotypical Prolonged Seizures. Active – Enrolling
