Pediatric Epilepsy Research

Here at Lurie Children’s, our research team works tirelessly to bring our patients and families an abundance of research opportunities, in a mission to discover new cures, every day. Our multidisciplinary team of physician-scientists conduct various research projects to help promote patient care and better educate families. We participate in studies funded by the National Institute of Health (NIH), pharmaceutical companies and our own investigator-initiated studies. We hope our research efforts will improve treatment for children with epilepsy.

Current Epilepsy Center Studies

An Open-Label Study to Investigate the Safety and Pharmacokinetics of Single and Multiple Ascending Doses of Antisense Oligonucleotide STK-001 in Children and Adolescents with Dravet Syndrome

An Open-Label Extension Study for Patients with Dravet Syndrome who Previously Participated in Studies of STK-001

Natural History Study of Infants and Children with SCN1A-positive (SCN1A+) Dravet (ENVISION)

A Phase 3 Study of Adjunctive XEN496 in Pediatric Subjects with KCNQ2 Developmental and Epileptic Encephalopathy

An Open-label, Randomized Trial to Assess the Safety, Pharmacokinetics, and Exploratory Efficacy of Adjunctive Cannabidiol Oral Solution (GWP42003-P) Compared with Standard of Care Antiepileptic Therapy, in Patients Age 1 Month to Less Than 12 Months of Age with Tuberous Sclerosis Complex Who Experience Inadequately-controlled Seizures

Copper Histidinate Treatment for Menkes Disease

Collection and Banking of Genetically Annotated Biospecimens

  • IRB #: 2017-1331 
  • Study Contact: Enrique Rojas, erojas@luriechildrens.org
  • PI: Dr. Leon Epstein
  • Description: The purpose of this research study is to collect and store tissue, cerebrospinal fluid (CSF), blood, urine samples and clinical information so that researchers can help find the causes of and new treatments for seizures through genetic testing.    

Evaluation of Induced Pluripotent Stem Cells and Cell Physiology in Children with Intractable Epilepsy Secondary to Ion Channel Mutations

  • IRB #: 2015-738
  • Study Contact: Enrique Rojas, erojas@luriechildrens.org
  • PI: Dr. Linda Laux 
  • Description: This study is being done to learn more about ion channel mutations in children and adults with epilepsy. This study is also being done to learn more about how ion channel mutations affects brain cells to cause seizures and to learn more about which medication may be helpful in treating seizures and to discover new medications for the treatment of epilepsy.

Genetic Basis and Molecular Mechanisms of Pediatric Epilepsies

  • IRB #: 2017-1332 
  • Study Contact: Enrique Rojas, erojas@luriechildrens.org
  • PI: Dr. Gemma L. Carvill 
  • Description: The primary aims of this study are to identify the genetic causes of pediatric epilepsy, characterize the clinical spectrum associated with these genetic variants, and to understand the biological processes that underpin these conditions.

A Learning Healthcare System for Pediatric Epilepsy

  • IRB #: 2018-1909
  • Study Contact: Abigail Van Nuland, avannuland@luriechildrens.org
  • Description: This study is designed to create a "learning healthcare system" for pediatric epilepsy, in which clinical data are collected, analyzed, and rapidly disseminated to change practice and improve outcomes. This is a multicentered collaborative group of pediatric epilepsy clinicians and researchers who are working to develop algorithms to identify individuals with specific subtypes of epilepsy and create an active registry of children with epilepsy. 

Establishing Biomarkers for Early Diagnosis and Prognostication in Sturge-Weber Syndrome

  • IRB #: 2019-3053
  • Study Contact: Enrique Rojas, erojas@luriechildrens.org
  • PI: Dr. Tracy Gertler
  • Description: The main goals of this study are to establish a clinical database of patients with Sturge-Weber syndrome (SWS) at Lurie Children’s and to collect blood samples to test in a research laboratory setting for the presence of pathogenic GNAQ variants.

Biorepository for Rare Neurogenetic Diseases

  • IRB #: 2020-3278
  • Study Contact: Enrique Rojas, erojas@luriechildrens.org
  • PI: Dr. Tracy Gertler
  • Description: The main goals of this study are to characterize key clinical features in children with rare neurodevelopmental disease and to collect and store cells from blood samples to study further in a research laboratory setting.

A 20-Week Multicenter, Randomized, Double-Blind, Placebo Controlled Trial of EPX-100 (Clemizole Hydrochloride) as Adjunctive Therapy in Patients with Dravet Syndrome (ARGUS Trial)

A Phase 2 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy, Safety, Tolerability, and Pharmacokinetics of NBI-921352 as Adjunctive Therapy in Subjects with SCN8A Developmental and Epileptic Encephalopathy Syndrome (SCN8A-DEE)

Epilepsy Big Data Approach: A Multi-Modality, Multi-Compartment, and Multi-Scale Characterization of the Developing Brain

  • IRB Number: 2020-4002
  • Study Contact: Enrique Rojas, erojas@luriechildrens.org
  • PI: Dr. Joyce Wu
  • Description: This study is open for patients undergoing an epilepsy surgery. The goal of this study is to collect and store biospecimens that would otherwise be discarded after surgery. Biospecimens paired with medical and clinical information; this combination of information may begin to help researchers find the causes of and new treatments for epilepsy.

GWEP17005: An Open-label, Randomized Trial to Assess the Safety, Pharmacokinetics, and Exploratory Efficacy of Adjunctive Cannabidiol Oral Solution (GWP42003-P) Compared with Standard of Care Antiseizure Medication, in Patients Age 1 Month to Less Than 12 Months of Age with Tuberous Sclerosis Complex who Experience Inadequately-controlled Seizures