GABA Biomarkers in Dravet Syndrome

Launched by COOK CHILDREN'S HEALTH CARE SYSTEM · Dec 13, 2022

Keywords

ClinConnect Summary

This clinical trial, titled "GABA Biomarkers in Dravet Syndrome," is studying a specific brain chemical called GABA in children diagnosed with Dravet Syndrome, a severe form of epilepsy. The researchers aim to measure GABA levels in the brain and blood of these children to better understand how it relates to their condition. This study is currently recruiting participants aged from birth to 18 years who have a confirmed genetic mutation related to Dravet Syndrome and who had normal development before their first seizure.

To participate, a child must be diagnosed with Dravet Syndrome and have had their first seizure between the ages of 3 and 5 months. Parents or caregivers will need to provide consent for their child to be part of the study. Participants can expect to undergo non-invasive tests to measure brain activity and GABA levels, which will help researchers gather important information about Dravet Syndrome. This study could contribute to a better understanding of the condition and potentially lead to improved treatments in the future.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • 1. Authorized representative (parent/caregiver) must be willing and able to give informed consent for the participant's participation in the study. Participants capable of providing informed assent must be willing to provide their assent.
• • 2. Participant and their parent/caregiver are willing and able (in the PI's opinion) to comply with all study requirements.
• • 3. Participant is male or female aged between 0 months and 18 years of age, inclusive, at the time of consent.
• • 4. Participant has a confirmed pathogenic or likely pathogenic SCN1A mutation, as demonstrated by genetic testing.
• • 5. Participant had normal development prior to onset of first seizure as defined by the Centers for Disease Control and Prevention (CDC 2019).
• • 6. Participant had an onset of seizures, defined as first focal clonic/hemiclonic, generalized/focal, generalized tonic-clonic/clonic, atonic, prolonged seizure, or status epilepticus between age 3 and 5 months, inclusive.
• • 7. Participant should have an evaluation by a pediatric neurologist with a diagnosis of DS.
• Exclusion Criteria:
• • 1. Participant has a copy number variant of SCN1A, including SCN1A microdeletion, affecting other genes.
• • 2. Participant has an SCN1A mutation present on both alleles.
• • 3. Participant has a known pathogenic or clinically suspected mutation in a seizure-associated gene besides SCN1A.
• • 4. Participant has a confirmed mutation in a gene besides SCN1A, that is known to increase the severity of the seizure phenotype.
• • 5. Participant has a known gain-of-function mutation, as defined by functional studies, including p.Thr226Met.
• • 6. Participant has a history of notable developmental deficit that was evident prior to seizure onset, by physician report.
• • 7. Participant has a known central nervous system structural abnormality as found on magnetic resonance imaging or computed tomography scan of brain which, in the opinion of the Principal Investigator (PI), is not consistent with the clinical phenotype of DS. Note: Prior scans may be used, and no new scan is required to confirm normal imaging.
• • 8. Metal implants.
• • 9. Baclofen pump.
• • 10. Inability or unwillingness of patient or parent/legally authorized representative to give written informed consent (and/or assent as appropriate).