Measuring GABA Levels in Children with Dravet Syndrome

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to non-invasively measure GABA levels in the brains of children with SCN1A+ Dravet Syndrome and compare them to neurodeveloping children. Using evoked and induced cortical responses, the study will correlate these measurements with blood GABA levels and BOLD responses. The goal is to develop noninvasive biomarkers that can help understand the GABA-related pathophysiology in Dravet Syndrome and potentially inform future treatments targeting GABA modulation.

Why it matters

Who can join: the full rules

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).

Where it's running

• Cook Children's Medical Center
  Fort Worth, Texas, United States Recruiting

Study contacts

• Principal investigator: Christos Papadelis, PhD — Cook Children's Health Care System
• Study coordinator: Sabrina Shandley, PhD
• Email: Sabrina.Shandley@cookchildrens.org
• Phone: (682) 885-3437

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Other studies for the same condition or treatment. Recruiting studies are listed first.

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• Evaluating ETX101 for treating Dravet syndrome in young children

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.