Focal refractory epilepsy in mitochondrial disease Nervous System Diseases
Conditions
Interventions
At baseline, participants will be randomly assigned to receive either sham stimulation (delayed-start group) or active tDCS (early-start group). The placebo group will receive a double-blinded sham pr
Sponsors
Newcastle upon Tyne Hospitals NHS Foundation Trust
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Adult and paediatric patients aged >=2 years 2. Patients with a genetically confirmed diagnosis of mitochondrial disease 3. Drug-resistant focal epilepsy defined by the International League Against Epilepsy (ILAE) as failure of two antiepileptic drugs to achieve sustained seizure freedom 4. Anatomically relevant changes related to focal seizures defined by neuroimaging and/or scalp EEG 5. Able to undergo all study assessments and investigations in the opinion of the recruiting investigator in agreement with the patient/parents/legal guardian 6. For patients under the age of 16 years, parental consent must be provided
Exclusion criteria
Exclusion criteria: 1. Paediatric patients aged <2 years 2. Patients with metallic implants (pins, stents, metal clips etc.) or electronic implants (e.g., pacemaker, defibrillator, cochlear implants, and other forms of stimulator) that typically preclude MRI scanning and/or tDCS treatment. 3. Patients with other co-existing epileptic comorbidity e.g., brain tumour, traumatic brain injury, cortical dysplasia 4. Patients with other known uncontrolled medical problems that, in the opinion of the investigator, would preclude participation in the study. 5. Inability of patient/legal guardian to provide informed consent. *MRI scanning is regularly done as part of the standard clinical care of our target patient group. This study relies on the MRI results in order to determine the target for tDCS stimulation as part of the regular clinical care. No MRI exams will be performed as a part of this study.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Seizure frequency (number and duration of seizures, jerks/min according to European Medicines Agency guidelines). This is measured by daily reporting from specialists, nurses, research staff, relatives, and carers by seizure diary and video monitoring from day 0 to day 14. | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. Seizure freedom (based on daily seizure diary for max 14 days, video monitoring, and end-of study EEG). 2. Adverse events measured using case report forms throughout the study. 3. Assessment of side effects by daily seizure diary. 4. Neurophysiology and/or neuroradiology findings: MRI, CT and EEG if obtained before study inclusion as part of standard care to localise the seizure are compared to measurements after the treatment. We obtain an end of study EEG and also ask permission for the patient’s clinical information (e.g. MRI/CT) obtained before and up to 6 months after the study to evaluate the treatment effects 5. Quality of life assessed by validated participant and carer(s) questionnaires at baseline and after 14 days | — |
Countries
England, United Kingdom
Outcome results
None listed