NCT05651204Recruiting
GABA Biomarkers in Dravet Syndrome
Electrophysiological Biomarkers of GABA Metabolism in Children With SCN1A+ Dravet Syndrome
Source: ClinicalTrials.gov · Last updated 14 Dec 2022 · Not updated for over 12 months - ask the site whether it is still open
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 36 (estimated)
- First submitted
- 7 Oct 2022
- Start date
- Sept 2022
- Primary completion date
- Sept 2024
- Lead sponsor
- Cook Children's Health Care System
- Diseases
- Epilepsy
- NCT number
- NCT05651204
What you commit to
- Study type: Observational
- Planned participants: 36
- From Sept 2022 to the primary completion date, Sept 2024
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Prior treatment
- 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.
Other illness
- 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.
Other
- 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 gain-of-function mutation, as defined by functional studies, including p.Thr226Met.
- Baclofen pump.
- Inability or unwillingness of patient or parent/legally authorized representative to give written informed consent (and/or assent as appropriate).
Who the study is looking for
- 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.
Age in the registry: - to 18 years · Sex: All · Accepts healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Cook Children's Medical Center Coordinator of this site? Confirm its status | Fort Worth | United States | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.