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

Study Purpose

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.

Recruitment Criteria

Accepts Healthy Volunteers

Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms

Study Type

An interventional clinical study is where participants are assigned to receive one or more interventions (or no intervention) so that researchers can evaluate the effects of the interventions on biomedical or health-related outcomes.

An observational clinical study is where participants identified as belonging to study groups are assessed for biomedical or health outcomes.

Searching Both is inclusive of interventional and observational studies.

Eligible Ages N/A - 18 Years
Gender All
More Inclusion & Exclusion Criteria

Inclusion Criteria:

  • - 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.

Exclusion Criteria:

  • - 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).

Trial Details

Trial ID:

This trial id was obtained from ClinicalTrials.gov, a service of the U.S. National Institutes of Health, providing information on publicly and privately supported clinical studies of human participants with locations in all 50 States and in 196 countries.


Phase 1: Studies that emphasize safety and how the drug is metabolized and excreted in humans.

Phase 2: Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition) and additional safety data.

Phase 3: Studies that gather more information about safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs.

Phase 4: Studies occurring after FDA has approved a drug for marketing, efficacy, or optimal use.

Phase 2/Phase 3
Lead Sponsor

The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data.

PTC Therapeutics
Principal Investigator

The person who is responsible for the scientific and technical direction of the entire clinical study.

Vinay Penematsa, MD
Principal Investigator Affiliation PTC Therapeutics
Agency Class

Category of organization(s) involved as sponsor (and collaborator) supporting the trial.

Overall Status Recruiting
Countries United States

The disease, disorder, syndrome, illness, or injury that is being studied.

Mitochondrial Diseases, Drug Resistant Epilepsy, Leigh Disease, Leigh Syndrome, Mitochondrial Encephalopathy (MELAS), Pontocerebellar Hypoplasia Type 6 (PCH6), Alpers Disease, Alpers Syndrome
Arms & Interventions


Experimental: Vatiquinone

15 milligrams/kilogram (mg/kg) if body weight <13 kg, and 200 mg if body weight ≥13 kg, administered orally, 3 times per day (TID) or up to 72 weeks

Placebo Comparator: Placebo

Vatiquinone-matching placebo, administered orally, TID for up to 24 weeks followed by vatiquinone 15 mg/kg if body weight <13 kg, and 200 mg if body weight ≥13 kg, administered orally, TID for up to 48 weeks.


Drug: - Vatiquinone

Vatiquinone will be administered per the treatment arm description.

Other: - Placebo

Vatiquinone-matching placebo will be administered per the treatment arm description

Contact a Trial Team

If you are interested in learning more about this trial, find the trial site nearest to your location and contact the site coordinator via email or phone. We also strongly recommend that you consult with your healthcare provider about the trials that may interest you and refer to our terms of service below.

Rady Children's Hospital UCSD, San Diego, California




Rady Children's Hospital UCSD

San Diego, California, 92123

Stanford University, Stanford, California




Stanford University

Stanford, California, 94305

Boston, Massachusetts




Pediatric Genetics Clinic (Main MGH Hospital)

Boston, Massachusetts, 02114-2696

Boston Children Hospital, Boston, Massachusetts




Boston Children Hospital

Boston, Massachusetts, 02115

Children's of Minnesota, Minneapolis, Minnesota




Children's of Minnesota

Minneapolis, Minnesota, 55404

Akron Children's Hospital, Akron, Ohio




Akron Children's Hospital

Akron, Ohio, 44308

Baylor College of Medicine, Houston, Texas




Baylor College of Medicine

Houston, Texas, 77030

University of Texas Health Science, Houston, Texas




University of Texas Health Science

Houston, Texas, 77030

Seattle Children's hospital, Seattle, Washington




Seattle Children's hospital

Seattle, Washington, 98105

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