RECRUITING

GABA Biomarkers in Dravet Syndrome

Conditions

Quick Navigation

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

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

Quick Facts

Study Start:2022-09-08

Study Completion:2027-09-08

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT05651204

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified to 18 Years

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:Yes

Standard Ages:CHILD, ADULT

Inclusion Criteria	Exclusion 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.	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).

Inclusion Criteria

Exclusion 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.

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).

Contacts and Locations

Study Contact

Sabrina Shandley, PhD

CONTACT

(682) 885-3437

Sabrina.Shandley@cookchildrens.org

Principal Investigator

Christos Papadelis, PhD

PRINCIPAL_INVESTIGATOR

Cook Children's Health Care System

Study Locations (Sites)

Cook Children's Medical Center

Fort Worth, Texas, 76104

United States

Collaborators and Investigators

Sponsor: Cook Children's Health Care System

Christos Papadelis, PhD, PRINCIPAL_INVESTIGATOR, Cook Children's Health Care System

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2022-09-08

Study Completion Date2027-09-08

Study Record Updates

Study Start Date2022-09-08

Study Completion Date2027-09-08

Terms related to this study

Additional Relevant MeSH Terms

Dravet Syndrome