Actively Recruiting
GABA Biomarkers in Dravet Syndrome
Led by Cook Children's Health Care System · Updated on 2022-12-14
36
Participants Needed
1
Research Sites
260 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
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.
CONDITIONS
Official Title
GABA Biomarkers in Dravet Syndrome
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Parent or caregiver is willing and able to provide informed consent; participants able to assent must provide assent
- Participant and caregiver can comply with all study requirements as judged by the investigator
- Male or female 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
- First seizure onset between 3 and 5 months of age
- Diagnosis of Dravet Syndrome confirmed by a pediatric neurologist
You will not qualify if you...
- Participant has SCN1A copy number variant affecting other genes
- SCN1A mutation on both alleles
- Known pathogenic or suspected mutation in other seizure-related genes besides SCN1A
- Mutation in other genes known to increase seizure severity
- Known gain-of-function mutation such as p.Thr226Met
- Developmental deficit evident before seizure onset
- Central nervous system structural abnormalities inconsistent with Dravet Syndrome
- 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
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
CONTACT
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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