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
No
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.
Interventional
Eligible Ages
N/A - 20 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 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.
Exclusion Criteria:
- 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.
Treatment with these agents must be completed at
least 4 weeks prior to enrollment.During the study, participants should not use
grapefruit/grapefruit juice or St John's wort extract.
- 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.
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 (for example, fat malabsorption
syndrome, other mitochondrial disorders) in the opinion of the investigator.
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.
Industry
Overall Status
Recruiting
Countries
Canada, France, Italy, Japan, Poland, Spain, Sweden, United Kingdom, United States
Conditions
The disease, disorder, syndrome, illness, or injury that is being studied.
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.
Interventions
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
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