Who may be eligible for the GABA Biomarkers in Dravet Syndrome trial?

Inclusion Criteria: 1. 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. 2. Participant and their parent/caregiver are willing and able (in the PI's opinion) to comply with all study requirements. 3. Participant is male or female aged between 0 months and 18 years of age, inclusive, at the time of consent. 4. Participant has a confirmed pathogenic or likely pathogenic SCN1A mutation, as demonstrated by genetic testing. 5. Participant had normal development prior to onset of first seizure as defined by the Centers for Disease Control and Prevention (CDC 2019). 6. 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. 7. Participant should have an evaluation by a pediatric neurologist with a diagnosis of DS. Exclusion Criteria: 1. Participant has a copy number variant of SCN1A, including SCN1A microdeletion, affecting other genes. 2. Participant has an SCN1A mutation present on both alleles. 3. Participant has a known pathogenic or clinically suspected mutation in a seizure-associated gene besides SCN1A. 4. Participant has a confirmed mutation in a gene besides SCN1A, that is known to increase the severity of the seizure phenotype. 5. Participant has a known gain-of-function mutation, as defined by functional studies, including p.Thr226Met. 6. Participant has a history of notable developmental deficit that was evident prior to seizure onset, by physician report. 7. 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. 8. Metal implants. 9. Baclofen pump. 10. Inability or unwillingness of patient or parent/legally authorized representative to give written informed consent (and/or assent as appropriate).

ClinicalTrials.gov record NCT05651204

GABA Biomarkers in Dravet Syndrome

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Aug 22, 2026

Electrophysiological Biomarkers of GABA Metabolism in Children With SCN1A+ Dravet Syndrome

About this page. This page shows the study's official ClinicalTrials.gov record ↗, with added help to make it easier to understand. We explain medical terms, highlight key details in plain language, and suggest questions you may want to ask the study team.

The record is periodically copied from ClinicalTrials.gov and may lag behind changes. AI summaries are checked by software, not a clinician.Read moreShow less

The official record is written by the study sponsor and published on ClinicalTrials.gov. It may not always reflect the latest changes. Before making any decisions, please confirm important information with the study team and your own healthcare team.

Where you see "AI summary", AI was used to create a plain-language explanation and software checked it against the source. It has not been reviewed by a clinician, so it may contain mistakes or leave out important details.

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.The registry record was last updated on Dec 14, 2022, about 3 years ago, so the status shown may be out of date. The study team or the registry can confirm.

Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.

Healthy volunteersAcceptedPeople who do not have the condition being studied who are allowed to take part. Some studies include both people with the condition and healthy volunteers; others may enrol only healthy volunteers.

AgeSee eligibility The registry's age field and its own written criteria give different ages for this study. Check the full criteria below and ask the study team.

SexAll

LocationUnited States

AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This is an observational case-control study that compares children with SCN1A+ Dravet Syndrome and age-matched neurotypical children. The study collects noninvasive brain measures (EEG, MEG, task-fMRI, TMS) and a blood sample to measure GABA. The team aims to develop noninvasive biomarkers related to GABA activity in the brain.

What it is studying. Whether noninvasive electrophysiological and imaging measures (evoked/induced brain responses, BOLD fMRI, TMS) correlate with GABA levels in the brain and with GABA measured in blood, and whether those measures differ between children with SCN1A+ Dravet Syndrome and neurotypical children.

What the researchers hope to learn. To develop noninvasive biomarkers for monitoring GABA levels in the brain, to improve understanding of GABA-related pathophysiology in children with Dravet Syndrome, and to inform future research into GABA-targeting treatments.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Diagnostic test: GABA Blood Level

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

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 criteria

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).

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

Epileptic seizures may result from too much excitation or too little inhibition in the area in which abnormal discharges start. Excitation and inhibition of neurons are mediated by g-aminobutyric acid (GABA) neurotransmitter among others. Several lines of evidence indicate an abnormal pathophysiological mechanism of GABA in children with Dravet Syndrome (DS). Other studies show that measures of the beta and gamma brain activity with non-invasive electrophysiological techniques correlate with the levels of GABA in the human brain. Here, we propose to assess these measures in children with SCN1A+DS and neurodeveloping healthy controls aiming to develop noninvasive biomarkers for the monitoring of the levels of GABA in their brain. Such a biomarker would be useful for understanding the pathophysiological GABA mechanism in children with DS and potentially guide the development of future GABAergic modulation treatments.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants will give a blood sample and take part in noninvasive brain measurements: task fMRI (child-friendly visual, auditory and somatosensory tasks; up to ~1.5 hours), magnetoencephalography (MEG; up to ~3 hours), high‑density EEG (up to ~90 minutes), and transcranial magnetic stimulation (TMS; mapping motor cortex, up to ~2 hours). During some scans children will watch cartoons and receive brief sensory stimuli (air puffs, brushing, sounds). MRI/MEG require lying still; aside from the blood draw, procedures are noninvasive. Prior clinical brain scans may be used and no new scan is required to confirm normal imaging.

How the study is structured. Prospective observational case-control study. Children with SCN1A+ Dravet Syndrome and age-matched neurotypical children undergo noninvasive testing and a blood draw. Tests listed in the registry include high-density EEG (up to 90 minutes), magnetoencephalography (MEG, up to 3 hours), task-based BOLD MRI (up to 1.5 hours), transcranial magnetic stimulation (TMS, up to 2 hours), and a clinical blood draw (up to 30 minutes). Data from these measures will be compared between the two groups.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

The registry lists this study under Dravet Syndrome. Does it apply to my diagnosis?
This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
Which of the eligibility criteria would need to be checked with tests before I could join?

More on CDKL5 deficiency disorder

This trial is also listed on this site under Dravet syndrome.

Clinical trials22 trials listed for CDKL5 deficiency disorderEvery trial the registry lists for CDKL5 deficiency disorder, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in CDKL5 deficiency disorder researchLatest monthly update: September 2026. Includes: EEG background changes. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start: Sep 8, 2022
Primary completion: Sep 8, 2024 (estimated)
Study completion: Sep 8, 2027 (estimated)
Target enrollment: 36 participants (estimated)
Last updated on registry: Dec 14, 2022
Data verified: Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor: Cook Children's Health Care System
Collaborators: Encoded Therapeutics

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Sabrina Shandley, PhD 📞 (682) 885-3437 ✉ Sabrina.Shandley@cookchildrens.org

Participating sites (1)

Cook Children's Medical CenterRecruiting
Fort Worth, Texas, 76104 · United States
- Sabrina Shandley, PhD · 682-885-3437 · Sabrina.Shandley@cookchildrens.org
- Laurie Bailey, PhD · (682) 885-2488 · laurie.bailey@cookchildrens.org
- Christos Papadelis, PhD

Terms used on this page · explanations by MedicalUpdates.ai

informed consent: The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
assent: A child's or dependent adult's agreement to take part, given alongside the formal consent of a parent or legal representative.
magnetic resonance imaging: A scan that uses magnets and radio waves, not X-rays, to make detailed pictures of the inside of the body. Some implants and metal objects mean a person cannot have one.
computed tomography: An X-ray scan that builds detailed cross-section images of the body. 'High-resolution' CT (HRCT) is used to look closely at the lungs.
Principal Investigator: The doctor or scientist responsible for running the study at a site or overall.
legally authorized representative: A person who is legally allowed to make decisions, including consent to research, on behalf of someone who cannot consent for themselves.
Inclusion Criteria: The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria: The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
biomarkers: Something measurable in the body, such as a blood test result or an imaging finding, that indicates how a condition or treatment is behaving.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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