Accepts Healthy Volunteers
Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms
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 - 20 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 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).
- - 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 except for participants who are <2 years of age at the time of screening (participants <2 years of age can be considered for enrollment if all other screening criteria are met due to the potential for rapid progression in these participants).
- - Consent to abstain from non-approved therapies for 30 days prior to the screening visit 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 seizures.
- - Allergy to vatiquinone or sesame oil.
- - Aspartate transaminase (AST) or alanine transaminase (ALT) ≥3 × upper level of normal (ULN) at time of screening.
- - International normalized ratio (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.
- - Concomitant treatment with idebenone.
- - Ongoing treatment with strong cytochrome P450 (CYP) inhibitors such as itraconazole or strong CYP inducers such as rifampin.
- - Pregnant or lactating participants or those male or female sexually active participants who are unwilling to comply with proper birth control methods from the time consent is signed until 30 days after treatment discontinuation.
- - Comorbidities that may confound study results (for example, fat malabsorption syndrome, other mitochondrial disorders) in the opinion of the investigator.
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|
The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data.
The person who is responsible for the scientific and technical direction of the entire clinical study.
|Vinay Penematsa, MD|
|Principal Investigator Affiliation||PTC Therapeutics|
Category of organization(s) involved as sponsor (and collaborator) supporting the trial.
|Countries||Canada, France, Italy, Japan, Spain, United Kingdom, 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|
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.