RecruitingNCT05651204
GABA Biomarkers in Dravet Syndrome
Electrophysiological Biomarkers of GABA Metabolism in Children With SCN1A+ Dravet Syndrome
Sponsor
Cook Children's Health Care System
Enrollment
36 participants
Start Date
Sep 8, 2022
Study Type
OBSERVATIONAL
Conditions
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.
Eligibility
Max Age: 18 Years
Inclusion Criteria7
- 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.
- Participant and their parent/caregiver are willing and able (in the PI's opinion) to comply with all study requirements.
- Participant is male or female aged between 0 months and 18 years of age, inclusive, at the time of consent.
- Participant has a confirmed pathogenic or likely pathogenic SCN1A mutation, as demonstrated by genetic testing.
- Participant had normal development prior to onset of first seizure as defined by the Centers for Disease Control and Prevention (CDC 2019).
- 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.
- Participant should have an evaluation by a pediatric neurologist with a diagnosis of DS.
Exclusion Criteria10
- Participant has a copy number variant of SCN1A, including SCN1A microdeletion, affecting other genes.
- Participant has an SCN1A mutation present on both alleles.
- Participant has a known pathogenic or clinically suspected mutation in a seizure-associated gene besides SCN1A.
- Participant has a confirmed mutation in a gene besides SCN1A, that is known to increase the severity of the seizure phenotype.
- Participant has a known gain-of-function mutation, as defined by functional studies, including p.Thr226Met.
- Participant has a history of notable developmental deficit that was evident prior to seizure onset, by physician report.
- 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.
- Metal implants.
- Baclofen pump.
- Inability or unwillingness of patient or parent/legally authorized representative to give written informed consent (and/or assent as appropriate).
Interested in this trial?
Get notified about updates and connect with the research team.
Interventions
DIAGNOSTIC_TESTGABA Blood Level
Blood specimens will be collected by a registered phlebotomist according to hospital's specimen collection procedures.
Locations(1)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT05651204
Related Trials
ASCEND: Safety and Tolerability of ION337 for the Treatment of Dravet Syndrome
NCT075317451 location
A Clinical Study to Evaluate the Safety and Efficacy of ETX101 in Infants and Children With SCN1A-Positive Dravet Syndrome
NCT0541949210 locations
A Phase 3, Placebo-Controlled Study to Investigate LP352 in Children and Adults With Dravet Syndrome (DS)
NCT0666039497 locations
A Double-blind Study Evaluating the Efficacy, Safety, and Tolerability of Zorevunersen in Patients With Dravet Syndrome
NCT0687212561 locations
Multicentre Real-life Follow-up Study of Rare Epileptic Syndromes in Children and Adolescents
NCT0512691411 locations