| NCT ID | NCT05651204 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Cook Children's Health Care System |
| Condition | Dravet Syndrome |
| Study Type | OBSERVATIONAL |
| Enrollment | 36 participants |
| Start Date | 2022-09-08 |
| Primary Completion | 2024-09-08 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 36 participants in total. It began in 2022-09-08 with a primary completion date of 2024-09-08.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
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
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).
Contact & Investigator
Christos Papadelis, PhD
PRINCIPAL INVESTIGATOR
Cook Children's Health Care System
Frequently Asked Questions
Who can join the NCT05651204 clinical trial?
This trial is open to participants of all sexes, up to 18 Years, studying Dravet Syndrome. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT05651204 currently recruiting?
Yes, NCT05651204 is actively recruiting participants. Contact the research team at Sabrina.Shandley@cookchildrens.org for enrollment information.
Where is the NCT05651204 trial being conducted?
This trial is being conducted at Fort Worth, United States.
Who is sponsoring the NCT05651204 clinical trial?
NCT05651204 is sponsored by Cook Children's Health Care System. The principal investigator is Christos Papadelis, PhD at Cook Children's Health Care System. The trial plans to enroll 36 participants.