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
This trial accepts healthy volunteersQualifiers
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 population
This study will recruit 18 children with a diagnosis of SCN1A+DS and 18 aged-matched neurotypical children (all aged 0-18 years old). Participants will be divided into three different age groups: * 0-7 years old (n=12; 6 children with a diagnosis of SCN1A+ DS and 6 age-matched neurotypical children). * \>7-12 years old (n=12; 6 children with a diagnosis of SCN1A+ DS and 6 age-matched neurotypical children). * \>12-18 years old (n=12; 6 children with a diagnosis of SCN1A+ DS and 6 age-matched neurotypical children).
Trial design
Design model
Case-control
Time perspective
Prospective
Treatments tested in this trial
GABA Blood Level
Diagnostic testBlood specimens will be collected by a registered phlebotomist according to hospital's specimen collection procedures.
Treatment groups
36 Participants
are divided into 2 treatment groupsGroup A: Dravet1 intervention
Group B: Age-Matched Control1 intervention
Trial outcomes
Primary outcomes
1
GABA Blood Level
GABA levels evaluated by clinical blood draw.
Time frame
Up to 30 minutesSecondary outcomes
1
BOLD (Blood oxygenation level dependent) MRI
For the task-fMRI scans, we will present to the participant child-friendly cartoon images and videos in order to localize the visually-induced BOLD response in their primary visual cortex. We will also deliver compressed air-puffs using a pneumatic stimulator and brush their fingers with a toothbrush in order to localize the somatosensory-induced BOLD response in their primary somatosensory cortex. Lastly, we will deliver to the participant beep sounds through an MRI-compatible headset in order to localize the auditory-induced BOLD response in their primary auditory cortex.
Time frame
Up to 1.5 hours2
MEG
We will use the MEG to measure evoked fields and potentials elicited by somatosensory, auditory, and visual stimuli.
Time frame
Up to 3 hours3
HD-EEG
We will use HD-EEG to measure evoked fields and potentials elicited by somatosensory, auditory, and visual stimuli.
Time frame
Up to 90 minutes4
TMS
TMS is a noninvasive procedure that uses magnetic fields to stimulate nerve cells in the brain in order to map the motor cortex. An electromagnetic coil is placed against the scalp near the forehead. The electromagnet non-invasively delivers a magnetic pulse that stimulates nerve cells in the region of your brain involved in motor control.
Time frame
Up to 2 HoursSponsors and contacts
Click on the lead sponsor to view all of their trials.
Cook Children's Health Care System
Lead sponsor
Encoded Therapeutics
Collaborator
Source ClinicalTrials.gov