NCT05651204

GABA Biomarkers in Dravet Syndrome

Electrophysiological Biomarkers of GABA Metabolism in Children With SCN1A+ Dravet Syndrome

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 36 (estimated)
• Sponsor: Cook Children's Health Care System · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Accepted

Summary

This study will non-invasively obtain levels of GABA in the brain of children with SCN1A+DS and neurodeveloping children through evoked and induced cortical responses, correlate them with the BOLD responses, and with the levels of GABA in their blood.

Detailed description

Epileptic seizures may result from too much excitation or too little inhibition in the area in which abnormal discharges start. Excitation and inhibition of neurons are mediated by g-aminobutyric acid (GABA) neurotransmitter among others. Several lines of evidence indicate an abnormal pathophysiological mechanism of GABA in children with Dravet Syndrome (DS). Other studies show that measures of the beta and gamma brain activity with non-invasive electrophysiological techniques correlate with the levels of GABA in the human brain. Here, we propose to assess these measures in children with SCN1A+DS and neurodeveloping healthy controls aiming to develop noninvasive biomarkers for the monitoring of the levels of GABA in their brain. Such a biomarker would be useful for understanding the pathophysiological GABA mechanism in children with DS and potentially guide the development of future GABAergic modulation treatments.

Conditions

• Dravet Syndrome

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	GABA Blood Level	Blood specimens will be collected by a registered phlebotomist according to hospital's specimen collection procedures.

Timeline

• Start date: 2022-09-08
• Primary completion: 2024-09-08
• Completion: 2027-09-08
• First posted: 2022-12-14
• Last updated: 2022-12-14

Locations

1 site across 1 country: United States