Transcranial Magnetic Stimulation (TMS) in Genetic Epilepsies

Not Applicable

Recruiting

• Conditions: Genetic Disease; Epilepsy
• Interventions: Diagnostic Test: transcranial magnetic stimulation (TMS)

• 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

Arm && Interventions

Group	Intervention	Description
Patients with primary headache	transcranial magnetic stimulation (TMS)	Patients with primary headache with non-migraine features
Genetic epilepsy	transcranial magnetic stimulation (TMS)	Patients with epilepsies of genetic etiology

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