A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy

Recruitment & Eligibility

Status: A

Sex: All

Target Recruitment: 80

Inclusion Criteria

•Signed informed consent form.
•Subjects with genetic confirmation of inherited mitochondrial disease with associated epilepsy phenotype (Alpers/POLG, Leigh syndrome, MELAS), or other genetically confirmed mitochondrial diseases secondary to mitochondrial mutations (Pontocerebellar Hypoplasia Type 6 [PCH6], nuclear DNA RARS2 mutation) or myoclonic epilepsy with ragged red fibers (MERRF, mitochondrial DNA [mtDNA] mitochondrially encoded tRNA lysine [MT-TK] mutation) are eligible.

•Despite treatment with at least 2 antiepileptic drugs:
?have =6 observed motor seizures occurring during the 28 days prior to the baseline visit (Day 0).
?have =2 observed motor seizures in the first 14 days and =2 in the second 14 days of the Run-in period (Day -14).
?do not have a consecutive 20-day seizure free period.
?have at least 80% of seizure diary data.
No changes to the AED regimen will be allowed (except weight-based dose adjustments) during the first 24-week period.

•Documented medical history of epilepsy symptoms associated with mitochondrial disease for at least 6 months prior to screening.
•Consent to abstain from non-approved therapies for 30 days prior to the baseline visit (Day 0) and for the duration of the study.
•Stable dose regimen of antiepileptic therapies 30 days prior to the screening visit
•Stable regimen of dietary supplements 30 days prior and, if on a ketogenic diet, stable ketogenic diet 90 days prior to the screening visit and for duration of the study.
•Electroencephalogram (EEG) at screening or historical EEG up to 6 months prior to screening for diagnostic confirmation of epilepsy.
Are the trial subjects under 18? yes
Number of subjects for this age range: 80
F.1.2 Adults (18-64 years) no
F.1.2.1 Number of subjects for this age range
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range

Exclusion Criteria

•Allergy to vatiquinone or sesame oil.
•Aspartate transaminase (AST) or alanine transaminase (ALT) =3×ULN at time of screening
•INR =ULN at time of screening
•Serum creatinine =1.5 × ULN at time of screening.
•Participation in another interventional clinical trial 60 days prior to randomization or for the duration of this clinical trial
•Previously received vatiquinone.
•Concomitant treatment with drug(s) that have not received regulatory agency approval for the treatment of mitochondrial diseases and use of artisanal (non-Epidiolex cannabidiol) cannabidiol therapies.
•Ongoing treatment with strong cytochrome P450 (CYP) inhibitors such as itraconazole or strong CYP inducers such as rifampin. Treatment with these agents must be completed at least 4 weeks prior to enrollment.
•Pregnant or lactating participants or those male and female sexually active subjects who are unwilling to comply with proper birth control methods. Females of childbearing potential must have a negative pregnancy test at screening and during the baseline visit (Day 0).
•Comorbidities that may confound study results (eg, fat malabsorption syndrome, other mitochondrial disorders) in the opinion of the investigator

Study & Design

Study Type: Interventional clinical trial of medicinal product

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method

Secondary Outcome Measures

Name	Time	Method

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