Transcranial Magnetic Stimulation (TMS) in Genetic Epilepsies

Not Applicable

Recruiting

• Conditions: Genetic Disease; Epilepsy

• Registration Number: NCT06284291
• Lead Sponsor: Meyer Children's Hospital IRCCS

Brief Summary

Transcranial magnetic stimulation (TMS) uses electromagnetic induction as an efficient, painless, non-invasive method to generate a suprathreshold current at the level of the encephalon, and provide in vivo measurements of cortical excitability and reactivity at the level of the motor cortex (TMS-EMG) or the entire cortical mantle (TMS-EEG). This study proposes TMS measurements as a diagnostic tool in patients to understand mechanisms of epileptogenesis related to genetic mutations, and prognostic to guide and monitor precision treatments.

Detailed Description

Not available

Study Timeline

• Study Start: 2023-11-22
• Status Verified: 2024-02
• Study First Submitted: 2024-02-15
• Study First Submitted QC: 2024-02-27
• Last Update Submitted: 2024-02-27
• Study First Posted: 2024-02-28
• Last Update Posted: 2024-02-28
• Primary Completion: 2025-11-30
• Study Completion: 2026-03-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 150

Inclusion Criteria

• Children aged >3 years and adults
• Diagnosis of epilepsy with presumed or confirmed genetic etiology. Diagnosis of genetic epilepsy is made by next-generation sequencing (NGS) analysis
• or Diagnosis of primary (non-hemicranial) headache, in the absence of alterations on neuroimaging, and no known genetic condition
• Obtaining informed consent

Exclusion Criteria

• Age <3 years
• Presence of contraindications to TMS: history of head or eye trauma with inclusion of metal fragments, cardiac pacemaker, arrhythmic heart disease, hearing implants, implantation of drug delivery devices, piercings or tattoos with metallic ink.
• Pregnancy status

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Primary Outcome Measures

Name	Time	Method
TEP amplitude	24 months	Amplitude of each component of the TMS-evoked potential (mV)
ICF	24 months	Intracortical facilitation (ratio)
TEP latency	24 months	Latency of each component of the TMS-evoked potential (msec)
Resting motor threshold	24 months	Resting motor threshold (%MSO)
SICI	24 months	Short Interval intracortical inhibition (ratio)
LICI	24 months	Long Interval Intracortical inhibition (ratio)

Trial Locations

Locations (1)

Meyer Children's Hospital IRCCS; 🇮🇹 Firenze, Italy