for people ages up to 18 years (full criteria)
study started
estimated completion
Principal Investigator
by Richard Haas, Dr. (ucsd)



This is a parallel-arm, double-blind, placebo-controlled study with a screening phase that includes a 28-day run-in phase to establish baseline seizure frequency, followed by a 24-week, randomized, placebo-controlled phase. After completion of the randomized, placebo-controlled phase, participants may enter a 48-week, long-term, extension phase during which they will receive open-label treatment with vatiquinone.

Official Title

Efficacy and Safety Study of Vatiquinone for the Treatment of Mitochondrial Disease Subjects With Refractory Epilepsy


Mitochondrial Diseases Drug Resistant Epilepsy Leigh Disease Leigh Syndrome Mitochondrial Encephalopathy (MELAS) Pontocerebellar Hypoplasia Type 6 (PCH6) Alpers Disease Alpers Syndrome POLG polymerase gamma ALPERS MELAS PCH6 Pontocerebellar hypoplasia type 6 MERRF intractable epilepsy Mitochondrial disease Oxidative stress Motor seizures Non-Motor seizures Seizure Refractory epilepsy Status epilepticus Ferroptosis Neurodegeneration Epilepsy Brain Diseases Diffuse Cerebral Sclerosis of Schilder Syndrome Vatiquinone


You can join if…

Open to people ages up to 18 years

  • Signed informed consent form.
  • Participant or parent/legal guardian is able and willing to complete seizure diaries for the duration of the study.
  • Genetic confirmation of inherited mitochondrial disease with associated epilepsy phenotype (Alpers/polymerase subunit gamma [POLG], Leigh syndrome, mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes [MELAS], or other genetically confirmed mitochondrial disease secondary to mitochondrial mutation).
  • Despite ongoing 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.
  • Documented medical history of epilepsy 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 60 days prior to the baseline visit (Day 0).
  • Stable regimen of dietary supplements 30 days prior and, if on a ketogenic diet, stable ketogenic diet 90 days prior to the baseline visit (Day 0) and for duration of the study.
  • Electroencephalogram (EEG) at screening or historical EEG for diagnostic confirmation of seizures.

You CAN'T join if...

  • Allergy to vatiquinone or sesame oil.
  • Aspartate transaminase (AST) or alanine transaminase (ALT) ≥2 × upper level of normal (ULN) at time of screening.
  • International normalized ratio (INR) ≥1.5 × 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.
  • Concomitant treatment with idebenone.
  • Ongoing treatment with cytochrome P450 (CYP) inhibitors such as itraconazole or CYP inducers such as rifampin. Treatment with these agents must be completed at least 4 weeks prior to enrollment.During the study, participants should not use grapefruit juice or St John's wort extract.
  • Pregnant or lactating participants or those sexually active participants 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).


  • Rady Children's Hospital UCSD accepting new patients
    San Diego California 92123 United States
  • Stanford University accepting new patients
    Stanford California 94305 United States

Lead Scientist at University of California Health

  • Richard Haas, Dr. (ucsd)
    Professor, Neurosciences. Authored (or co-authored) 5 research publications.


accepting new patients
Start Date
Completion Date
PTC Therapeutics
Phase 2/3
Study Type
Last Updated