Mitochondrial DiseasesPhase 2/3MIT-ENCT04378075
A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy
A Phase 2/3 study testing Vatiquinone in people with Mitochondrial Diseases and Drug Resistant Epilepsy, run by PTC Therapeutics at 27 sites in 9 countries.
Trial summary
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. Read more about this study
- Who is it for?
- Ages Up to 20 years
- Conditions the study is for
- Mitochondrial Diseases, Drug Resistant Epilepsy, Leigh Disease
- What is being tested?
- Vatiquinone
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 68 participants
- Where
- 27 sitesin 9 countries
- Study dates
- 28 Sep 2020to 27 Dec 2023
- Phase
- Phase 2/3
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 20 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- 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).
Show all 13Show fewer
- 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.
Who cannot join
- 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.
Show all 11Show fewer
- 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 locations and contacts
27 sites in 9 countries.
27 sites in 9 countries
United States12 sites
Akron Children's Hospital
Akron, Ohio, 44308
John Hopkins Medicine
Baltimore, Maryland, 21287
Pediatric Genetics Clinic (Main MGH Hospital)
Boston, Massachusetts, 02114-2696
Boston Children Hospital
Boston, Massachusetts, 02115
Baylor College of Medicine
Houston, Texas, 77030
University of Texas Health Science
Houston, Texas, 77030
Children's of Minnesota
Minneapolis, Minnesota, 55404
Yale School of Medicine
New Haven, Connecticut, 06520
University of California
San Diego, California, 92123
Seattle Children's hospital
Seattle, Washington, 98105
Stanford University
Stanford, California, 94305
Children's National Medical Center - Department Of Neurology
Washington D.C., District of Columbia, 20010
France4 sites
CHU d'Angers - Service de génétique
Angers, 49933
CHU de Montpellier - Hôpital Gui de Chauliac - Département de neuropédiatrie
Montpellier, 34295
A.P.H.P - Hôpital Necker-Enfants Malades - Service de Neurologie pédiatrique
Paris, 75015
CHU de Strasbourg - Hôpital de Hautepierre - Service de Neuropédiatrie
Strasbourg, 67200
Spain3 sites
Hospital Sant Joan de Déu
Barcelona, 08950
Hospital Ruber Internacional, Neurology Department, Epilepsy Program
Madrid, 28034
Hospital Universitario 12 de Octubre
Madrid, 28041
Italy2 sites
UOC Neuropsichiatria Infantile, Istituto Neurologico Carlo Besta-Fondazione IRCCS
Milan, 20133
U.O.C. Malattie Muscolari e Neurodegenerative, Dipartimento di Scienze Neurologiche e Psichiatriche, Ospedale Pediatrico Bambino Gesù
Roma, 00165
United Kingdom2 sites
Great Ormond Street Hospital for Children NHS Foundation Trust
London, WC1N 3JH
The Newcastle Upon Tyne Hospitals NHS Foundation Trust
Newcastle upon Tyne, NE1 4LP
Canada1 site
Alberta Children's Hospital, University of Calgary
Calgary, T3B 6A8
Poland1 site
Instytut Pomnik-Centrum Zdrowia Dziecka, Centrum Wsparacia Pediatrycznych Badań Klinicznych
Warsaw, 04-730
Sweden1 site
Karolinska University hospital, Astrid Lindgrens Children Hospital
Stockholm, S-171 76
About this study
Official title: Efficacy and Safety Study of Vatiquinone for the Treatment of Mitochondrial Disease Subjects With Refractory Epilepsy
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.
- Conditions
- Mitochondrial Diseases, Drug Resistant Epilepsy, Leigh Disease, Leigh Syndrome, Mitochondrial Encephalopathy (MELAS), Pontocerebellar Hypoplasia Type 6 (PCH6)
- Being tested
- Vatiquinone, Placebo
- Keywords
- 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
- Medical subject headings
- Mitochondrial Diseases, Drug Resistant Epilepsy, Leigh Disease, Mitochondrial encephalopathy, MELAS Syndrome, Pontocerebellar Hypoplasia Type 6, Diffuse Cerebral Sclerosis of Schilder, MERRF Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
VatiquinoneDrug
Also called PTC743, EPI-743
Vatiquinone will be administered per the treatment arm description.
PlaceboOther
Vatiquinone-matching placebo will be administered per the treatment arm description
| Study group | Role | What they receive |
|---|---|---|
| Vatiquinone | Experimental | 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 Receives: Drug: Vatiquinone; Other: Placebo |
| Placebo | Placebo comparator | 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. Receives: Other: Placebo |
What is being measured
The primary outcome is the main question the study is designed to answer.
Percent Change From Baseline to Week 24 in the Number of Observable Motor Seizures Per 28 Days During the Double-blind Period
The 28-day motor seizure frequency in the double-blind period was calculated as the (number of motor seizures)/ (the number of valid days where motor seizure count information is present) * 28 within the double-blind period. The baseline of the seizure frequency used the 28 days observations immediately prior to treatment start date for this calculation.
Measured: Baseline to Week 24
Secondary outcomes (22)
Change From Baseline to Week 24 in Number of Disease-Related Hospitalization Days Per 28 Days in Double-Blind Period
The disease-related hospitalization days per 28 days in the double-blind period was calculated as the (number of disease-related hospitalizations)/(the number of days within the double-blind period) * 28.
The baseline hospitalization used the 28 days observations immediately prior to treatment start date for this calculation.
Measured: Baseline to Week 24
Change From Baseline to Week 72 in Number of Disease-Related Hospitalization Days Per 28 Days in Overall Period
The disease-related hospitalization days per 28 days in the overall period was calculated as the (number of disease-related hospitalizations)/(the number of days within the overall treatment period) * 28.
The baseline hospitalization used the 28 days observations immediately prior to treatment start date for this calculation.
Measured: Baseline to Week 72
Change From Baseline to Week 24 in Occurrence/Recurrence of Status Epilepticus Per 28 Days in Double-blind Period
The status epilepticus per 28 Days in the double-blind period was calculated as the (number of status epilepticus incidences)/(the number of days in the double-blind period) * 28.
The baseline status epilepticus incidences used the 28 days observations immediately prior to treatment start date for this calculation.
Measured: Baseline to Week 24
Change From Baseline to Week 72 in Occurrence/Recurrence of Status Epilepticus Per 28 Days in Overall Period
The status epilepticus per 28 Days in the overall period was calculated as the (number of status epilepticus incidences)/(the number of days in the overall period) * 28.
The baseline status epilepticus incidences used the 28 days observations immediately prior to treatment start date for this calculation.
Measured: Baseline to Week 72
Number of Participants With Disease-Related In-Patient Hospitalizations in Double-Blind Period
In-patient hospitalization per 28 days in the double-blind period was calculated as the (number of in-patient hospitalization)/(the number of days in the double-blind period) * 28.
The baseline in-patient hospitalization used the 28 days observations immediately prior to treatment start date for this calculation. Number of participants with in-patient hospitalizations for either seizure or epilepticus per 28 days in double-blind period are reported.
Measured: Baseline to Week 24
Number of Participants With Disease-Related In-Patient Hospitalizations in Overall Period
In-patient hospitalization per 28 days in the overall period was calculated as the (number of in-patient hospitalization)/(the number of days in the overall period) * 28.
The baseline in-patient hospitalization used the 28 days observations immediately prior to treatment start date for this calculation. Number of participants with in-patient hospitalizations for either seizure or epilepticus per 28 days in overall period are reported.
Measured: Baseline to Week 72
Number of Participants With Disease-Related Emergency Room Visits in Double-Blind Period
Disease-related emergency room visits per 28 days in the double-blind period was calculated as the (number of disease-related emergency room visits)/(the number of days in the double-blind period) * 28. The baseline disease-related emergency room visits used the 28 days observations immediately prior to treatment start date for this calculation. Number of participants with disease-related emergency room visits for either seizure or epilepticus per 28 days in double-blind period are reported.
Measured: Baseline to Week 24
Number of Participants With Disease-Related Emergency Room Visits in Overall Period
Disease-related emergency room visits per 28 days in the overall period was calculated as the (number of disease-related emergency room visits)/(the number of days in the overall period) * 28.
The baseline disease-related emergency room visits used the 28 days observations immediately prior to treatment start date for this calculation. Number of participants with disease-related emergency room visits for either seizure or epilepticus per 28 days in overall period are reported.
Measured: Baseline to Week 72
Number of Disease-Related In-Patient Hospitalizations in Double-Blind Period
In-patient hospitalization per 28 days in the double-blind period was calculated as the (number of in-patient hospitalization)/(the number of days in the double-blind period) * 28.
The baseline in-patient hospitalization used the 28 days observations immediately prior to treatment start date for this calculation. Number of participants with number of in-patient hospitalizations for either seizure or epilepticus per 28 days in double-blind period are reported.
Measured: Baseline to Week 24
Number of Disease-Related In-Patient Hospitalizations in Overall Period
In-patient hospitalization per 28 days in the overall period was calculated as the (number of in-patient hospitalization)/(the number of days in the overall period) * 28.
The baseline in-patient hospitalization used the 28 days observations immediately prior to treatment start date for this calculation. Number of participants with number in-patient hospitalizations for either seizure or epilepticus per 28 days in overall period are reported.
Measured: Baseline to Week 72
Number of Disease-Related Emergency Room Visits in Double-Blind Period
Disease-related emergency room visits per 28 days in the double-blind period was calculated as the (number of disease-related emergency room visits)/(the number of days in the double-blind period) * 28.
The baseline disease-related emergency room visits used the 28 days observations immediately prior to treatment start date for this calculation. Number of participants with number of emergency room visits for either seizure or epilepticus per 28 days in double-blind period are reported.
Measured: Baseline to Week 24
Number of Disease-Related Emergency Room Visits in Overall Period
Disease-related emergency room visits per 28 days in the overall period was calculated as the (number of disease-related emergency room visits)/(the number of days in the overall period) * 28.
The baseline disease-related emergency room visits used the 28 days observations immediately prior to treatment start date for this calculation. Number of participants with number of emergency room visits for either seizure or epilepticus per 28 days in overall period are reported.
Measured: Baseline to Week 72
Percent Change From Baseline to Week 24 in Total Seizure Frequency Per 28 Days in Double-Blind Period
The total seizure frequency per 28 days in the double-blind period was calculated as the (number of total seizures)/(the number of valid days where total seizure count information is present) * 28 within the double-blind period.
The baseline of the seizure frequency used the 28 days observations immediately prior to treatment start date for this calculation.
Measured: Baseline, Week 24
Percent Change From Baseline to Week 72 in Total Seizure Frequency Per 28 Days in Overall Period
Overall period was defined as the period from the first dosing date of investigational product (IP) during double-blind period to the end of study (double-blind + open-label period).
The 28 day total seizure frequency in the overall period was calculated as the (number of total seizures)/(the number of valid days where total seizure count information is present) * 28 within the overall period.
The baseline of the seizure frequency used the 28 days observations immediately prior to treatment start date for this calculation.
Measured: Baseline, Week 72
Number of Participants Taking Rescue Medications in the Double-blind Period
Number of participants taking rescue medications for epilepsy in double-blind period are reported.
Measured: Baseline to Week 24
Number of Participants Taking Rescue Medications in the Overall Period
Number of participants taking rescue medications for epilepsy in overall period are reported.
Measured: Baseline to Week 72
Change From Baseline to Week 24 in Health-Related Quality of Life as Measured by the Care-Related Quality of Life of Informal Caregivers (CarerQoL-7D) Questionnaire Score in Double-blind Period
The CarerQol-7D consists of 5 negative and 2 positive dimensions of providing informal care. The negative dimensions are relational problems, mental health problems, problems combining daily activities with care, financial problems and physical health problems because of providing informal care. The 2 positive dimensions are fulfilment from caregiving and support with lending care. For each dimension, there are 3 possible responses: no, some and a lot. Utility tariffs for CarerQol have been developed to calculate a weighted sum score of CarerQol-7D from the responses on the 7 dimensions, ranging from 0 (worst imaginable caregiving situation) to 100 (best imaginable caregiving situation), for which discrete choice experiments were used. Higher sum scores reflect better care-related quality of life.
Measured: Baseline, Week 24
Change From Baseline to Week 72 in Health-Related Quality of Life as Measured by the CarerQoL-7D Questionnaire Score in Overall Period
The CarerQol-7D consists of 5 negative and 2 positive dimensions of providing informal care. The negative dimensions are relational problems, mental health problems, problems combining daily activities with care, financial problems and physical health problems because of providing informal care. The 2 positive dimensions are fulfilment from caregiving and support with lending care. For each dimension, there are 3 possible responses: no, some and a lot. Utility tariffs for CarerQol have been developed to calculate a weighted sum score of CarerQol-7D from the responses on the 7 dimensions, ranging from 0 (worst imaginable caregiving situation) to 100 (best imaginable caregiving situation), for which discrete choice experiments were used. Higher sum scores reflect better care-related quality of life.
Measured: Baseline, Week 72
Number of Participants With Motor Seizure Clusters in Double-Blind Period
Seizure clusters were defined by "too many to count" entries in the seizure diaries. The motor seizure clusters per 28 days in the double-blind period was calculated as the (number of motor seizure clusters)/(the number of valid days where motor seizure clusters count information was present) * 28 within the double-blind period.
The baseline of the seizure frequency used the 28 days observations immediately prior to treatment start date for this calculation.
Measured: Baseline to Week 24
Number of Participants With Motor Seizure Clusters in Overall Period
Seizure clusters were defined by "too many to count" entries in the seizure diaries. The motor seizure clusters per 28 days in the overall period was calculated as the (number of motor seizure clusters)/(the number of valid days where motor seizure clusters count information was present) * 28 within the overall period.
The baseline of the seizure frequency used the 28 days observations immediately prior to treatment start date for this calculation.
Measured: Baseline to Week 72
Number of Participants With >30%, 30% to -30%, < -30% to -60%, < -60% to -100% Reduction in Motor Seizures Per 28 Days During the Double-blind Period
Number of participants whose motor seizure frequency reduction per 28 days was more than the specified percentage compared to baseline were reported.
Measured: Baseline to Week 24
Number of Participants With >30%, 30% to -30%, < -30% to -60%, < -60% to -100% Reduction in Total Seizures Per 28 Days During the Double-blind Period
Number of participants whose total seizure frequency reduction per 28 days was more than the specified percentage compared to baseline were reported.
Measured: Baseline to Week 24
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 May 2020
- Study start28 Sep 2020
- Primary completion18 Mar 2023
- Study completion27 Dec 2023
Why it stopped: Sponsor decision.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for Mitochondrial DiseasesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2/3
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Quadruple blind
- Who is masked
- Participant, Care provider, Investigator, Outcomes assessor
- Enrolment
- 68 participants (actual)
Sponsor and investigators
- Lead sponsor
- PTC Therapeutics
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Vinay Penematsa, MD, Study director, PTC Therapeutics
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04378075
- Sponsor's protocol ID
- PTC743-MIT-001-EP
- Other IDs
- 2020-002100-39
- Acronym
- MIT-E
- Status last verified
- Mar 2025
- First submitted
- 4 May 2020
- Last updated
- 31 Mar 2026
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 31 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Efficacy and Safety Study of Vatiquinone for the Treatment of Mitochondrial Disease Subjects With Refractory Epilepsy
- ClinicalTrials.gov ID
- NCT04378075
- Acronym / sponsor ID
- MIT-E / PTC743-MIT-001-EP
- Conditions
- Mitochondrial Diseases, Drug Resistant Epilepsy, Leigh Disease, Leigh Syndrome, Mitochondrial Encephalopathy (MELAS), Pontocerebellar Hypoplasia Type 6 (PCH6)
- Keywords
- POLG, polymerase gamma, ALPERS, MELAS, PCH6, Pontocerebellar hypoplasia type 6, MERRF, intractable epilepsy
- Phase
- Phase 2/3
- Study type
- Interventional
- Recruitment status
- TerminatedReason stopped: Sponsor decision.
- Enrolment
- 68 participants (actual)
- Lead sponsor
- PTC TherapeuticsIndustry (pharma, biotech, devices)
- Study start
- 28 Sep 2020 (actual)
- Primary completion
- 18 Mar 2023 (actual)
- Study completion
- 27 Dec 2023 (actual)
- First posted
- 7 May 2020 (actual)
- Results
- Posted 25 Mar 2026
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Quadruple blind (participant, care provider, investigator, outcomes assessor)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Vatiquinone | Experimental | Drug: Vatiquinone, Other: Placebo15 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 | Placebo comparator | Other: PlaceboVatiquinone-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. |
Who may qualify
- Ages
- Up to 20 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (13 listed)
- 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:
- 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).
Key exclusion criteria (11 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| VatiquinoneAlso: PTC743, EPI-743Vatiquinone will be administered per the treatment arm description. | Drug | Vatiquinone |
| PlaceboVatiquinone-matching placebo will be administered per the treatment arm description | Other | Placebo, Vatiquinone |
Primary outcome
Percent Change From Baseline to Week 24 in the Number of Observable Motor Seizures Per 28 Days During the Double-blind Period
Time frame: Baseline to Week 24
The 28-day motor seizure frequency in the double-blind period was calculated as the (number of motor seizures)/ (the number of valid days where motor seizure count information is present) * 28 within the double-blind period. The baseline of the seizure frequency used the 28 days observations immediately prior to treatment start date for this calculation.
22 secondary outcomes
Change From Baseline to Week 24 in Number of Disease-Related Hospitalization Days Per 28 Days in Double-Blind Period
Time frame: Baseline to Week 24
Change From Baseline to Week 72 in Number of Disease-Related Hospitalization Days Per 28 Days in Overall Period
Time frame: Baseline to Week 72
Change From Baseline to Week 24 in Occurrence/Recurrence of Status Epilepticus Per 28 Days in Double-blind Period
Time frame: Baseline to Week 24
Change From Baseline to Week 72 in Occurrence/Recurrence of Status Epilepticus Per 28 Days in Overall Period
Time frame: Baseline to Week 72
Number of Participants With Disease-Related In-Patient Hospitalizations in Double-Blind Period
Time frame: Baseline to Week 24
Number of Participants With Disease-Related In-Patient Hospitalizations in Overall Period
Time frame: Baseline to Week 72
Number of Participants With Disease-Related Emergency Room Visits in Double-Blind Period
Time frame: Baseline to Week 24
Number of Participants With Disease-Related Emergency Room Visits in Overall Period
Time frame: Baseline to Week 72
Number of Disease-Related In-Patient Hospitalizations in Double-Blind Period
Time frame: Baseline to Week 24
Number of Disease-Related In-Patient Hospitalizations in Overall Period
Time frame: Baseline to Week 72
Number of Disease-Related Emergency Room Visits in Double-Blind Period
Time frame: Baseline to Week 24
Number of Disease-Related Emergency Room Visits in Overall Period
Time frame: Baseline to Week 72
Percent Change From Baseline to Week 24 in Total Seizure Frequency Per 28 Days in Double-Blind Period
Time frame: Baseline, Week 24
Percent Change From Baseline to Week 72 in Total Seizure Frequency Per 28 Days in Overall Period
Time frame: Baseline, Week 72
Number of Participants Taking Rescue Medications in the Double-blind Period
Time frame: Baseline to Week 24
Number of Participants Taking Rescue Medications in the Overall Period
Time frame: Baseline to Week 72
Change From Baseline to Week 24 in Health-Related Quality of Life as Measured by the Care-Related Quality of Life of Informal Caregivers (CarerQoL-7D) Questionnaire Score in Double-blind Period
Time frame: Baseline, Week 24
Change From Baseline to Week 72 in Health-Related Quality of Life as Measured by the CarerQoL-7D Questionnaire Score in Overall Period
Time frame: Baseline, Week 72
Number of Participants With Motor Seizure Clusters in Double-Blind Period
Time frame: Baseline to Week 24
Number of Participants With Motor Seizure Clusters in Overall Period
Time frame: Baseline to Week 72
Number of Participants With >30%, 30% to -30%, < -30% to -60%, < -60% to -100% Reduction in Motor Seizures Per 28 Days During the Double-blind Period
Time frame: Baseline to Week 24
Number of Participants With >30%, 30% to -30%, < -30% to -60%, < -60% to -100% Reduction in Total Seizures Per 28 Days During the Double-blind Period
Time frame: Baseline to Week 24
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 31 Mar 2026.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Individual participant dataSharing planned: Undecided
Related trials for Mitochondrial Diseases
Active, not recruiting
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis
RecruitingPhase 1
A Study of SGT-212 Gene Therapy in Friedreich's Ataxia
Friedreich's Ataxia (FA)
Not yet recruitingObservational study
Role of AMPKalpha2 in Myonuclear Accretion in Mitochondrial Myopathies
MItochondrial Myopathies
Active, not recruiting
Efficacy of Stabilometric Platform to Improve Standing Balance in Patients With Friedreich's Ataxia
Friedreich Ataxia
Recruiting
Electroencephalogram in Patients With Friedreich's Ataxia for the Study of the Structural and Functional Connectome.
Friedreich's Ataxia, Motor Disorders
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Vinay Penematsa, MD study director
PTC Therapeutics
27 sites in 9 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2/3 study testing Vatiquinone in people with Mitochondrial Diseases and Drug Resistant Epilepsy, run by PTC Therapeutics at 27 sites in 9 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 13 inclusion and 11 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 31 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 27 sites in United States, France, Spain, Italy, United Kingdom and 4 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. Some participants in this study may receive a placebo. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this combined phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Phase 3 studies compare the treatment with the current standard treatment or a placebo in a large group, to confirm how well it works and watch for side effects.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
Yes. Results are posted in the registry (first posted 25 Mar 2026). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Percent Change From Baseline to Week 24 in the Number of Observable Motor Seizures Per 28 Days During the Double-blind Period (time frame: Baseline to Week 24). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 31 Mar 2026.