Recruiting

TMS

Sponsor:

Boston Children's Hospital

Code:

NCT04614506

Conditions

Dravet Syndrome

Eligibility Criteria

Sex: All

Age: 0 - 30

Healthy Volunteers: Not accepted

Interventions

Transcranial Magnetic Stimulation (TMS)

Electroencephalogram (EEG)

Study Details

Brief summary:

Dravet syndrome (DS) is an epileptic encephalopathy caused by pathogenic variants in the SCN1A gene resulting in medically refractory epilepsy and psychomotor delays.

As a pilot study assessing for feasibility, the investigators aim to test whether alterations in cortical excitatory:inhibitory ratio can be reliably recorded. The investigators will utilize transcranial magnetic stimulation (TMS) metrics of cortical excitatory and inhibitory tone as an initial step towards translating findings from rodent genetic models of DS into disease-specific biomarkers and offer future measures of therapeutic target engagement in this patient population.

Participants will complete two visits, each consisting of a TMS session and an EEG session. Visits will be scheduled 4-8 weeks apart.

Conditions

Dravet Syndrome

Study ID

NCT04614506

Start date

Nov 2, 2020

Status verified date

Mar, 2022

Completion date

Dec, 2022

Anticipated

Primary completion date

Dec, 2022

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 30

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • Age: 6 months - 30 years
  • Ability to obtain informed consent with the participant or legally authorized representative
  • DS confirmed by pathogenic variant in SCN1A gene
  • Medical history consistent with clinical phenotype of DS

Exclusion Criteria:

  • Comorbid conditions such as a second genetic diagnosis which may confound interpretation.
  • Current or planned participation in a clinical drug or device trial.
  • Previous participation in a gene therapy or gene editing trial
  • Allergy to adhesives used for surface EMG electrodes
  • Contraindications to TMS (e.g. implanted devices for which there is no TMS safety data)

Study Design

Enrollment

6 participants

Anticipated

Interventions and Outcome Measures

Arms

Subject with DS

Participants will complete two visits spaced out by 4 - 8 weeks to undergo neurophysiological assessments (Electroencephalogram \[EEG\], and Transcranial magnetic stimulation \[TMS\]).

Interventions

Transcranial Magnetic Stimulation (TMS)

Transcranial magnetic stimulation (TMS) is a method for noninvasive electrical cortical stimulation, where small intracranial currents are generated by a powerful, fluctuating, extracranial magnetic field. TMS is unique in its capacity for experimental, diagnostic, and therapeutic utility. Single pulse (spTMS) and paired-pulse TMS (ppTMS) have been used extensively to study, measure, and modulate cortical excitability and plasticity.

Electroencephalogram (EEG)

These will be an ambulatory EEG recordings that span 24 hours and done without sedation. Recordings will be performed using electrode locations specified by the international 10-20 system for standard clinical practice.

Primary outcome measure

  • Resting motor threshold (% machine output) [ Time Frame: 1 year ]
  • Durations of cortical silent period (ms) [ Time Frame: 1 year ]
  • Ratio of motor evoked potential amplitudes (no units) [ Time Frame: 1 year ]
  • Cortical Inhibitory Tone [ Time Frame: 1 year ]

Central Contacts and Locations

Central contacts

Paul MacMullin

617-355-4875Paul.MacMullin@childrens.harvard.edu

Melissa Tsuboyama, MD

Melissa.Tsuboyama@childrens.harvard.edu

Locations

Boston Children's Hospital

Recruiting

Boston, Massachusetts, United States, 02115

Contacts

Paul MacMullin

Paul.MacMullin@childrens.harvard.edu

Principal Investigator:

Alexander Rotenberg, MD, PHD

More Information

Sponsor

Boston Children's Hospital

Last update posted

Mar 22, 2022

Last verified

Mar, 2022

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Boston Children's Hospital on 2022-03-22.