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New drug aims to tame hard-to-control seizures in rare mitochondrial disorders

NCT ID NCT04378075

Disease control Sponsor: PTC Therapeutics Source: ClinicalTrials.gov ↗

What the study statuses mean

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Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early This study
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study tested a drug called vatiquinone in 68 people with mitochondrial disease and epilepsy that doesn't respond to standard treatments. Participants were randomly assigned to receive either vatiquinone or a placebo for 24 weeks to see if the drug could reduce the number of visible seizures. The study was stopped early, but the goal was to find a new way to help control seizures in these rare, serious conditions.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Phase

Phase 2/3

Runs two stages together: whether the treatment works, then large-scale confirmation.

Participants

68 people

The number who actually took part.

Started

Sep 2020

Finished

Dec 2023

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Ages

Up to 20 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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.

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Conditions

The condition(s) this trial relates to.

Diffuse Cerebral Sclerosis of Schilder Drug Resistant Epilepsy inborn mitochondrial metabolism disorder Leigh syndrome MELAS syndrome MERRF syndrome mitochondrial disease mitochondrial DNA depletion syndrome 4a mitochondrial encephalomyopathy Mitochondrial encephalopathy Nerve Degeneration pontocerebellar hypoplasia type 6 Status Epilepticus visual epilepsy

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Alpers disease Alpers syndrome Drug resistant epilepsy Leigh disease Leigh syndrome Mitochondrial diseases Mitochondrial encephalopathy (melas) Pontocerebellar hypoplasia type 6 (PCH6)

Contacts and locations

Locations

  • A.P.H.P - Hôpital Necker-Enfants Malades - Service de Neurologie pédiatrique

    Paris, 75015, France

  • Akron Children's Hospital

    Akron, Ohio, 44308, United States

  • Alberta Children's Hospital, University of Calgary

    Calgary, T3B 6A8, Canada

  • Baylor College of Medicine

    Houston, Texas, 77030, United States

  • Boston Children Hospital

    Boston, Massachusetts, 02115, United States

  • CHU d'Angers - Service de génétique

    Angers, 49933, France

  • CHU de Montpellier - Hôpital Gui de Chauliac - Département de neuropédiatrie

    Montpellier, 34295, France

  • CHU de Strasbourg - Hôpital de Hautepierre - Service de Neuropédiatrie

    Strasbourg, 67200, France

  • Children's National Medical Center - Department Of Neurology

    Washington D.C., District of Columbia, 20010, United States

  • Children's of Minnesota

    Minneapolis, Minnesota, 55404, United States

  • Great Ormond Street Hospital for Children NHS Foundation Trust

    London, WC1N 3JH, United Kingdom

  • Hospital Ruber Internacional, Neurology Department, Epilepsy Program

    Madrid, 28034, Spain

  • Hospital Sant Joan de Déu

    Barcelona, 08950, Spain

  • Hospital Universitario 12 de Octubre

    Madrid, 28041, Spain

  • Instytut Pomnik-Centrum Zdrowia Dziecka, Centrum Wsparacia Pediatrycznych Badań Klinicznych

    Warsaw, 04-730, Poland

  • John Hopkins Medicine

    Baltimore, Maryland, 21287, United States

  • Karolinska University hospital, Astrid Lindgrens Children Hospital

    Stockholm, S-171 76, Sweden

  • PTC Clinical Site

    Multiple Locations, Japan

  • Pediatric Genetics Clinic (Main MGH Hospital)

    Boston, Massachusetts, 02114-2696, United States

  • Seattle Children's hospital

    Seattle, Washington, 98105, United States

  • Stanford University

    Stanford, California, 94305, United States

  • The Newcastle Upon Tyne Hospitals NHS Foundation Trust

    Newcastle upon Tyne, NE1 4LP, United Kingdom

  • U.O.C. Malattie Muscolari e Neurodegenerative, Dipartimento di Scienze Neurologiche e Psichiatriche, Ospedale Pediatrico Bambino Gesù

    Roma, 00165, Italy

  • UOC Neuropsichiatria Infantile, Istituto Neurologico Carlo Besta-Fondazione IRCCS

    Milan, 20133, Italy

  • University of California

    San Diego, California, 92123, United States

  • University of Texas Health Science

    Houston, Texas, 77030, United States

  • Yale School of Medicine

    New Haven, Connecticut, 06520, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.