GABA Biomarkers in Dravet Syndrome
ConditionDravet Syndrome
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeUp to 18
SponsorCook Children's Health Care System
About this trial
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 criteria
Qualifiers
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.
Disqualifiers
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.
Trial design
Treatments tested in this trial
- GABA Blood Level
Treatment groups
36 Participants
are divided into 2 treatment groupsSponsors and collaborators
Cook Children's Health Care System
Lead sponsor
Encoded Therapeutics
Collaborator
Source ClinicalTrials.gov