Transcranial Magnetic Stimulation to Measure Cortical Excitability in Dravet Syndrome

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Brief Title

Transcranial Magnetic Stimulation to Measure Cortical Excitability in Dravet Syndrome

Official Title

Transcranial Magnetic Stimulation to Measure Cortical Excitability in Dravet Syndrome

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.
    

Detailed Description

      This is a single site study to be conducted at Boston Children's Hospital (BCH) investigating
      the neurophysiological biomarkers of epilepsy and developmental disability in children and
      young adults with Dravet Syndrome.

      Mechanistically, the features of the DS phenotype are attributable to a loss of cortical
      inhibition. TMS is a non-invasive form of focal cortical stimulation in which an external
      powerful magnet induces an electrical field intracranially over the stimulated region that is
      used to interrogate or modulate states of cortical excitation or inhibition.

      Accordingly, the investigators propose to test whether metrics of cortical excitability and
      inhibition can be obtained by transcranial magnetic stimulation (TMS) and EEG in patients
      with DS.
    


Study Type

Observational


Primary Outcome

Resting motor threshold (% machine output)


Condition

Dravet Syndrome

Intervention

Transcranial Magenetic Stimulation (TMS)

Study Arms / Comparison Groups

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

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Device

Estimated Enrollment

6

Start Date

November 2, 2020

Completion Date

December 2021

Primary Completion Date

December 2021

Eligibility Criteria

        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)
      

Gender

All

Ages

6 Months - 30 Years

Accepts Healthy Volunteers

No

Contacts

Alexander Rotenberg, MD, PhD, 617-919-4617, [email protected]

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT04614506

Organization ID

IRB-P00034206


Responsible Party

Principal Investigator

Study Sponsor

Boston Children's Hospital

Collaborators

 Encoded Therapeutics

Study Sponsor

Alexander Rotenberg, MD, PhD, Principal Investigator, Boston Children's Hospital


Verification Date

February 2021