Actively Recruiting
Electrophysiological Biomarkers of GABA Metabolism in Children With SCN1A+ Dravet Syndrome
Led by Cook Children's Health Care System · Updated on 2022-12-14
36
Participants Needed
1
Research Sites
156 weeks
Total Duration
On this page
Sponsors
C
Cook Children's Health Care System
Lead Sponsor
E
Encoded Therapeutics
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are investigating the levels of GABA, a neurotransmitter involved in neuron excitation and inhibition, in children with SCN1A-positive Dravet Syndrome (DS) and neurodeveloping children. The study focuses on understanding abnormal GABA mechanisms in DS by comparing brain activity and blood GABA levels. This research aims to develop noninvasive biomarkers to monitor brain GABA levels, which may help guide future treatments targeting GABA regulation in children with DS. The study involves measuring GABA levels in the brain and blood using noninvasive techniques. Blood samples will be collected by a trained phlebotomist following hospital procedures. Brain activity will be recorded through various methods including BOLD MRI, MEG, HD-EEG, and TMS to assess cortical responses related to GABA. Participants include children with SCN1A+ DS and age-matched healthy controls. Participants will undergo blood collection and multiple brain imaging and electrophysiological assessments lasting from 30 minutes up to 3 hours depending on the test. The study evaluates correlations between blood GABA levels, brain activity patterns, and MRI responses. Researchers will monitor these outcomes to better understand GABA metabolism in DS. The study is designed for children up to 18 years old and involves no treatment intervention, focusing on observation and diagnostic testing.
CONDITIONS
Brief Title
GABA Biomarkers in Dravet Syndrome
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Authorized representative (parent/caregiver) must provide informed consent; participant capable of assent must provide it
- Participant and caregiver willing and able to comply with study requirements
- Participant aged 0 months to 18 years at consent
- Confirmed pathogenic or likely pathogenic SCN1A mutation by genetic testing
- Normal development before first seizure as defined by CDC 2019
- Seizure onset between 3 and 5 months of age
- Diagnosis of Dravet Syndrome by a pediatric neurologist
You will not qualify if you...
- Presence of SCN1A copy number variant affecting other genes
- SCN1A mutation on both alleles
- Pathogenic or suspected mutation in seizure gene other than SCN1A
- Mutation in gene increasing seizure severity besides SCN1A
- Known gain-of-function mutation including p.Thr226Met
- Notable developmental deficit before seizure onset
- Known central nervous system structural abnormality inconsistent with DS
- Metal implants
- Baclofen pump
- Inability or unwillingness to provide informed consent or assent
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 3 hours
Participants undergo blood tests and non-invasive electrophysiological procedures to assess GABA levels and brain activity.
1 visit (in-person)
Duration - Up to several years until study completion
Participants are observed for further understanding of GABA metabolism in Dravet Syndrome without receiving treatment.
Visit schedule varies depending on assessments
Trial Site Locations
Total: 1 location
1
Cook Children's Medical Center
Fort Worth, Texas, United States, 76104
Actively Recruiting
Research Team
S
Sabrina Shandley, PhD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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