Cook Children’s Opens Clinical Trial For Investigational Treatment of Rare Epilepsy Disorder

A new clinical trial has the potential to offer new hope to children living with SCN8A Developmental and Epileptic Encephalopathy (SCN8A-DEE). It is the first ever trial for an SCN8A-specific treatment modality, and Cook Children’s Medical Center may be one of the first hospitals in the country to open the trial to volunteers.

“This very severe type of epilepsy currently has no approved treatment,” said M. Scott Perry, M.D., study investigator and medical director of the Genetic Epilepsy Clinic at Cook Children’s Jane and John Justin Neurosciences Center. “This targeted drug treatment is designed to directly target the cause of their SCN8A-related seizures.”

SCN8A-DEE is a very rare genetic disorder that causes seizures and developmental impairment in children. Seizures often begin in the first 18 months of life (average 4 months) with a variety of seizure types including infantile spasms, generalized tonic-clonic, myoclonic, focal-onset and absence seizures amongst others. Common manifestations of the disease may also include other movement disorders, mild to severe intellectual disability and autistic symptoms.

The link between the SCN8A gene and epilepsy was first discovered in 2016 by a geneticist searching for the cause of his daughter’s seizure disorder. SCN8A is a gene that encodes sodium channels found throughout the nervous system and is highly expressed in the brain. Sodium channels are, in part, responsible for generating the electricity of the brain. In children with an SCN8A mutation, sodium channels can open too easily or stay open too long, which increases the production of electricity and leads to seizures. Click here to learn more about SCN8A-related epilepsy.

 “Other anti-seizure medications are often prescribed for this disorder but they have to be given in high doses to be effective, and that can lead to increased side effects,” Dr. Perry said. “The drug we’re studying selectively binds to a specific sodium channel and therefore may reduce the side effects these children often experience with other non-targeted seizure medications.”

The trial, slated to begin in the third quarter of 2021, is now accepting volunteer participants at Cook Children’s Genetic Epilepsy Clinic. Participants must be between 12 and 21 years old (inclusive) and have a confirmed SCN8A-DEE diagnosis.

Other eligibility requirements include:

• Average at least one countable motor seizure per week. Must not be seizure-free for more than 20 consecutive days.

• Currently treated with at least one other anti-seizure medication (ASM), but no more than four.

• Unable to achieve seizure freedom with at least two ASMs currently or in the past.

• Must use a nocturnal alerting system or practice consistent with standards of care at the time of screening. The alerting system/practice must be used for the duration of the study.

• Must have an adequate rescue medication regimen in place at the time of screening and use it for the duration of the study. The investigator will determine the adequacy of the rescue medication regimen.

• The participant’s parent/caregiver must be able to accurately identify seizure types, especially countable motor seizures such as grand mal, tonic, atonic or focal onset, and be able to complete a seizure diary.

Individuals who have participated in an interventional clinical trial less than 30 days prior to screening are not eligible. Other excluding criteria includes:

• Have symptoms more consistent with another epilepsy disorder.

• Currently receiving cannabinoids or medical marijuana, except Epidiolex/ Epidyolex, unless approved by the investigator.

• Currently taking systemic steroids, unless it is an inhaled medication for asthma treatment. A participant must be off of these medications for at least three months prior to screening. They may not be taken during the duration of the study, unless they are intermittent steroids to treat non-epilepsy related diseases such as allergies or dermatological conditions.

• Have a history of moderate or severe head trauma or other neurological disorders or diseases that are, in the investigator's opinion, likely to affect function of the nervous system.

• Have a clinically significant medical condition or chronic disease that, in the opinion of the investigator, would prevent the subject from participating in and completing the study, or that could complicate interpretation of study outcomes.

• Have clinically significant abnormal vital signs at the screening visit.

• Have one or more clinical laboratory test results at the screening visit that may put the participant’s safety at risk.

• Have an abnormal electrocardiogram (ECG) at the screening visit or the presence of any significant cardiac abnormality.

For more information about the trial, or to determine your child’s eligibility for enrollment, contact Cook Children’s trial investigators at 682-885-2844.