A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy (MIT-E)
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|ClinicalTrials.gov Identifier: NCT04378075|
Recruitment Status : Active, not recruiting
First Posted : May 7, 2020
Last Update Posted : February 21, 2023
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|Condition or disease||Intervention/treatment||Phase|
|Mitochondrial Diseases Drug Resistant Epilepsy Leigh Disease Leigh Syndrome Mitochondrial Encephalopathy (MELAS) Pontocerebellar Hypoplasia Type 6 (PCH6) Alpers Disease Alpers Syndrome||Drug: Vatiquinone Other: Placebo||Phase 2 Phase 3|
|Study Type :||Interventional (Clinical Trial)|
|Actual Enrollment :||60 participants|
|Intervention Model:||Parallel Assignment|
|Masking:||Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)|
|Official Title:||Efficacy and Safety Study of Vatiquinone for the Treatment of Mitochondrial Disease Subjects With Refractory Epilepsy|
|Actual Study Start Date :||September 28, 2020|
|Estimated Primary Completion Date :||March 31, 2023|
|Estimated Study Completion Date :||March 30, 2024|
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
Vatiquinone will be administered per the treatment arm description.
Vatiquinone-matching placebo will be administered per the treatment arm description
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.
Vatiquinone-matching placebo will be administered per the treatment arm description
- Percent Change From Baseline to Week 24 in the Number of Observable Motor Seizures per 28 Days [ Time Frame: Day 0, Week 24 ]
- Number of Disease-Related Hospital Days [ Time Frame: Week 24 and up to Week 72 ]
- Number of Participants with Occurrences or Recurrence of Status Epilepticus [ Time Frame: Week 24 and up to Week 72 ]
- Number of Participants with Disease-Related In-Patient Hospitalizations or Emergency Room Visits [ Time Frame: Week 24 and up to Week 72 ]
- Number of Disease-Related In-Patient Hospital Admissions or Emergency Room Visits [ Time Frame: Week 24 and up to Week 72 ]
- Percent Change From Baseline to Week 72 in Total Seizure Frequency per 28 Days [ Time Frame: Day 0, Week 24, Week 72 ]
- Percentage of Participants with ≥25%, ≥50%, ≥75%, and 100% Reduction in Motor Seizures [ Time Frame: Week 24 and up to Week 72 ]
- Percentage of Participants with ≥25%, ≥50%, ≥75%, and 100% Reduction in Total Seizures [ Time Frame: Week 24 and up to Week 72 ]
- Number of Participants Who Require Rescue Seizure Medication [ Time Frame: Week 24 and up to Week 72 ]
- Health-Related Quality of Life as Measured by the Care-Related Quality of Life of Informal Caregivers (CarerQoL-7D) Questionnaire [ Time Frame: Week 24 and up to Week 72 ]
- Number of Participants with Seizure Clusters [ Time Frame: Week 24 and up to Week 72 ]
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|Ages Eligible for Study:||up to 20 Years (Child, Adult)|
|Sexes Eligible for Study:||All|
|Accepts Healthy Volunteers:||No|
- 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. 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.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04378075
|Study Director:||Vinay Penematsa, MD||PTC Therapeutics|
|Responsible Party:||PTC Therapeutics|
|Other Study ID Numbers:||
2020-002100-39 ( EudraCT Number )
|First Posted:||May 7, 2020 Key Record Dates|
|Last Update Posted:||February 21, 2023|
|Last Verified:||February 2023|
|Individual Participant Data (IPD) Sharing Statement:|
|Plan to Share IPD:||Undecided|
|Studies a U.S. FDA-regulated Drug Product:||Yes|
|Studies a U.S. FDA-regulated Device Product:||No|
Pontocerebellar hypoplasia type 6
Drug Resistant Epilepsy
Diffuse Cerebral Sclerosis of Schilder
Central Nervous System Diseases
Nervous System Diseases
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Pyruvate Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
Demyelinating Autoimmune Diseases, CNS
Autoimmune Diseases of the Nervous System
Immune System Diseases