GABA Biomarkers in Dravet Syndrome

NCT05651204 | Recruiting

• 1 other identifier: 2022-051
• Study Type: observational
• Target: 36
• Locations: 1 country
• Sites: 1

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.

Conditions

Dravet Syndrome

Outcome Measures

Primary Outcomes (1)

• GABA Blood Level

  GABA levels evaluated by clinical blood draw.

  Up to 30 minutes

Secondary Outcomes (4)

• BOLD (Blood oxygenation level dependent) MRI

  Up to 1.5 hours

• MEG

  Up to 3 hours

• HD-EEG

  Up to 90 minutes

• TMS

  Up to 2 Hours

Study Arms (2)

Dravet

Diagnostic Test: GABA Blood Level

Age-Matched Control

Diagnostic Test: GABA Blood Level

Interventions

GABA Blood Level DIAGNOSTIC_TEST

Blood specimens will be collected by a registered phlebotomist according to hospital's specimen collection procedures.

Age-Matched Control; Dravet

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Probability Sample

Study 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).

You may qualify if:

• 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.

You may not qualify if:

• 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).

Sponsors & Collaborators

• Cook Children's Health Care System: lead
• Encoded Therapeutics: collaborator

Study Sites (1)

Cook Children's Medical Center

Fort Worth, Texas, 76104, United States

RECRUITING

MeSH Terms

Conditions

Epilepsies, Myoclonic

Condition Hierarchy (Ancestors)

Epilepsy, Generalized; Epilepsy; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Epileptic Syndromes

Study Officials

• Christos Papadelis, PhD

  Cook Children's Health Care System

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Sabrina Shandley, PhD

CONTACT

(682) 885-3437; Sabrina.Shandley@cookchildrens.org

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 7, 2022
• First Posted: December 14, 2022
• Study Start: September 8, 2022
• Primary Completion: September 8, 2024
• Study Completion (Estimated): September 8, 2027
• Last Updated: December 14, 2022

Record last verified: 2022-12

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)