This month’s news features work done in part by one of our grantees, Dr. Gemma Carvill. The research identified a genetic variant which activates a poisonous piece of genetic code, possibly leading to seizures. In addition, research found a 70% reduction in seizures in rats given stem cell brain implants compared to rats without implants.
In treatment-related advances, two clinical studies found positive results in pursuit of new treatments for epilepsy and related conditions.
Summaries of all highlighted studies follow below. We’ve organized the findings into three categories: Treatment Advances, Diagnostic Advances, and Research Discoveries.
Ovid Therapeutics Announces Phase 1b/2a Results of OV935/TAK-935 in Adults with Rare Epilepsies
Ovid Therapeutics announced results from a 12-week, Phase 1b/2a clinical trial of OV935/TAK-935 that enrolled 18 adults with rare developmental and epileptic encephalopathies who were not successfully treated with available treatment regimens. The trial achieved its primary endpoint of safety and tolerability, as well as showed OV935 was generally well tolerated.
Improved Everyday Executive Function with Fenfluramine HCL Oral Solution (FINTEPLA®): Results from a Phase 3 Study in Children and Young Adults with Dravet Syndrome
In a Phase 3 study of individuals with Dravet syndrome, fenfluramine showed significant and clinically meaningful improvements in behavior regulation and emotion regulation, as well as planning and organization.
An Improved Tool for Lennox-Gastaut Syndrome Screening
The complex clinical presentation and progression of Lennox-Gastaut syndrome (LGS) can complicate the accurate diagnosis of this severe, lifelong, childhood-onset epilepsy, often resulting in suboptimal treatment. As described in Epilepsy & Behavior, the Refractory Epilepsy Screening Tool for LGS (REST-LGS) may be a valuable clinical tool for identifying patients with LGS.
Epilepsy Study Points to Promising New Uses for Existing Drugs
In a study published in Annals of Clinical and Translational Neurology, University of Iowa researchers tested candidate drugs from a list of FDA-approved drugs not currently being used to treat epilepsy. The researchers found three — a diabetes drug, a hypertension medication, and an antiparasitic therapy — which significantly reduced seizure-like movement in zebrafish.
Groundbreaking Stem Cell Brain Implant Helps Fight Epilepsy in Rats
As described in the journal Proceedings of the National Academy of Sciences, researchers at Texas A&M University found that rats given stem cell brain implants suffered 70% fewer seizures than those without. The investigation demonstrated that grafting certain cells derived from human-induced pluripotent stem cells into the brain can help alleviate seizures, as well as improve brain function.
Study Highlights Potential Benefits of Continuous EEG Monitoring for Infant Patients
A recent retrospective study evaluating continuous electroencephalography (cEEG) of children in intensive care units found a higher than anticipated number of seizures. The work also identified several conditions closely associated with the seizures and suggests cEEG monitoring may be a valuable tool for helping to identify and treat neurological problems in patients who are 14 months old or younger.
HudsonAlpha Scientists Identify “Poisonous” Piece of Genetic Code Causing Infant Seizures
Featuring the Work of CURE Grantee Gemma L. Carvill, PhD
Scientists at the HudsonAlpha Institute for Biotechnology, along with collaborators from across the country, identified a variant in the SCN1A gene which causes a poisonous piece of genetic code, called a poison exon, to be included in the final instructions for making the crucial SCN1A protein. When the poison exon is incorporated, it prematurely cancels the protein’s production, disrupting neural function and leading to seizure disorders.
Childhood Seizures and Risk of Psychiatric Disorders in Adolescence and Early Adulthood: a Danish Nationwide Cohort Study
A study published in The Lancet found that children with epilepsy and febrile seizures – with and without concomitant epilepsy – are at increased risk of developing a broad range of psychiatric disorders in later life. Clarification of the underlying mechanisms attributable to these associations is needed to identify potential options for prevention.
Two Possible New Ways to Treat Silent Seizures in Children
As early as 3 months of age, infants with Dravet syndrome start having convulsive seizures, during which their arms and legs jerk repeatedly. As they become toddlers, another type of seizure – the silent seizure – begins to appear. A recent study published in Cell Reports characterizes silent seizures in a mouse model of Dravet syndrome and identifies the brain area which could be targeted to stop them.
Wireless ‘Pacemaker for the Brain’ Could Be New Standard Treatment for Neurological Disorders
A new neurostimulator developed by engineers at UC Berkeley can listen to and stimulate electric current in the brain at the same time, potentially delivering fine-tuned treatments to patients with diseases like epilepsy and Parkinson’s. The device is called the WAND and works like a “pacemaker for the brain,” monitoring the brain’s electrical activity and delivering electrical stimulation if it detects something amiss.
Use of Common Epilepsy Drug in Pregnancy Tied to ADHD in Kids
When a woman with epilepsy uses the anti-seizure drug valproate during a pregnancy, the odds her baby will develop attention-deficit/hyperactivity disorder (ADHD) rise, a new study suggests. The Danish report can’t prove valproate causes ADHD in these cases, only that there’s an association. The findings were published online in JAMA Network Open.