Inherited Mitochondrial DiseasePhase 3NCT05218655
A Safety Study for Previously Treated Vatiquinone (PTC743) Participants With Inherited Mitochondrial Disease
A Phase 3 study testing Vatiquinone in people with Inherited Mitochondrial Disease, run by PTC Therapeutics at 26 sites in 7 countries.
Trial summary
The primary objective of this study is to assess the safety of vatiquinone in participants with inherited mitochondrial disease who had prior exposure to vatiquinone in a PTC/BioElectron sponsored (previously Edison) clinical study or treatment plan. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Inherited Mitochondrial Disease
- What is being tested?
- Vatiquinone
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 101 participants
- Where
- 26 sitesin 7 countries
- Study dates
- 22 Jun 2022to 15 Apr 2025
- Phase
- Phase 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Participants with inherited mitochondrial disease including Leigh syndrome, Alpers syndrome, mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), myoclonic epilepsy with ragged-red fibers (MERRF), pontocerebellar hypoplasia type 6 (PCH6), or other mitochondrial disease who participated in a previous vatiquinone clinical study or treatment plan.
- Women of childbearing potential must have a negative pregnancy test at screening/baseline and agree to abstinence or the use of at least 1 of the highly effective forms of contraception as specified in the protocol (with a failure rate of <1% per year when used consistently and correctly). Highly effective contraception or abstinence must be continued for the duration of the study, and for up to 30 days after the last dose of study drug.
- Fertile men who are sexually active with women of childbearing potential and who have not had a vasectomy, must agree to use a barrier method of birth control during the study and for up to 30 days after the last dose of study drug.
Who cannot join
- Current participation in any other interventional study.
- Pregnancy or breast feeding.
Trial locations and contacts
26 sites in 7 countries.
26 sites in 7 countries
United States14 sites
Akron Children's Hospital
Akron, Ohio, 44308
The Johns Hopkins University
Baltimore, Maryland, 21205
Medical University of South Carolina - MUSC
Charleston, South Carolina, 29425
Cleveland Clinic
Cleveland, Ohio, 44195
Child Neurology Center of Northwest Florida
Gulf Breeze, Florida, 32561
Baylor College of Medicine
Houston, Texas, 77030
UT Health The University of Texas
Houston, Texas, 77030
University of California, San Diego Altman Clinical and Translational Research Institute
La Jolla, California, 92037
Yale Medicine
New Haven, Connecticut, 06511
Columbia University Medical Center - CUMC
New York, New York, 10032
Children's Hospital of Philadelphia - CHOP
Philadelphia, Pennsylvania, 19104
Seattle Children Hospital
Seattle, Washington, 98105
Stanford University
Stanford, California, 94305
Children's National
Washington D.C., District of Columbia, 20010
France4 sites
Chu Angers
Angers, 49933
CHU Montpellier - Hopital Saint-Eloi
Montpellier, 34295
Hopital Necker-Enfants Malades
Paris, 75015
Hôpital de Hautepierre - Hôpitaux Universitaires de Strasbourg
Strasbourg, 67000
Spain3 sites
Hospital Sant Joan de Déu
Barcelona, 08950
Hospital Universitario 12 de Octubre
Madrid, 28003
Hospital Ruber Internacional
Madrid, 28034
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
About this study
Official title: An Open-Label, Safety Study for Previously Treated Vatiquinone (PTC743) Subjects With Inherited Mitochondrial Disease
The primary objective of this study is to assess the safety of vatiquinone in participants with inherited mitochondrial disease who had prior exposure to vatiquinone in a PTC/BioElectron sponsored (previously Edison) clinical study or treatment plan.
The study will continue until vatiquinone becomes commercially available or the program is terminated.
- Conditions
- Inherited Mitochondrial Disease
- Being tested
- Vatiquinone
- Keywords
- Leigh syndrome, Alpers Syndrome, mitochondrial encephalomyopathy, MELAS, MERRF, PCH6, refractory epilepsy
- Medical subject headings
- Leigh Disease, Diffuse Cerebral Sclerosis of Schilder, Mitochondrial Encephalomyopathies, MELAS Syndrome, MERRF Syndrome, Drug Resistant Epilepsy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
VatiquinoneDrug
Also called PTC743
Vatiquinone will be administered per dose and schedule specified in the arm description.
| Study group | Role | What they receive |
|---|---|---|
| Vatiquinone | Experimental | Participants will receive vatiquinone oral solution (100 milligrams [mg]/milliliter [mL]), up to 400 mg, administered orally or via feeding tube 3 times daily (TID). Receives: Drug: Vatiquinone |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Participants With Treatment-emergent Adverse Events (TEAEs)
An adverse event (AE) was any untoward medical occurrence in a participant who received study drug without regard to possibility of causal relationship. AEs included both serious adverse events (SAEs) and non-serious AEs. A TEAE was defined as an AE that had an onset date or date of worsening on or after the first dose of study drug and within 30 days of the date of the last dose of treatment. A summary of other non-serious AEs and all SAEs, regardless of causality is located in the 'Reported AE section'.
Measured: Baseline (Day 1) up to 30 days after last dose of study drug (956 days)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Feb 2022
- Study start22 Jun 2022
- Primary completion15 Apr 2025
- Study completion15 Apr 2025
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 Inherited Mitochondrial DiseaseStudies 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 3
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 101 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
- NCT05218655
- Sponsor's protocol ID
- PTC743-CNS-005-LSEP
- Other IDs
- 2022-000375-39
- Status last verified
- Dec 2025
- First submitted
- 19 Jan 2022
- Last updated
- 22 Dec 2025
- Results posted
- Yes, on ClinicalTrials.gov
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 22 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Open-Label, Safety Study for Previously Treated Vatiquinone (PTC743) Subjects With Inherited Mitochondrial Disease
- ClinicalTrials.gov ID
- NCT05218655
- Acronym / sponsor ID
- PTC743-CNS-005-LSEP
- Conditions
- Inherited Mitochondrial Disease
- Keywords
- Leigh syndrome, Alpers Syndrome, mitochondrial encephalomyopathy, MELAS, MERRF, PCH6, refractory epilepsy
- Phase
- Phase 3
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 101 participants (actual)
- Lead sponsor
- PTC TherapeuticsIndustry (pharma, biotech, devices)
- Study start
- 22 Jun 2022 (actual)
- Primary completion
- 15 Apr 2025 (actual)
- Study completion
- 15 Apr 2025 (actual)
- First posted
- 1 Feb 2022 (actual)
- Results
- Posted 22 Dec 2025
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The primary objective of this study is to assess the safety of vatiquinone in participants with inherited mitochondrial disease who had prior exposure to vatiquinone in a PTC/BioElectron sponsored (previously Edison) clinical study or treatment plan.
The study will continue until vatiquinone becomes commercially available or the program is terminated.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Vatiquinone | Experimental | Drug: VatiquinoneParticipants will receive vatiquinone oral solution (100 milligrams [mg]/milliliter [mL]), up to 400 mg, administered orally or via feeding tube 3 times daily (TID). |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (3 listed)
- Participants with inherited mitochondrial disease including Leigh syndrome, Alpers syndrome, mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), myoclonic epilepsy with ragged-red fibers (MERRF), pontocerebellar hypoplasia type 6 (PCH6), or other mitochondrial disease who participated in a previous vatiquinone clinical study or treatment plan.
- Women of childbearing potential must have a negative pregnancy test at screening/baseline and agree to abstinence or the use of at least 1 of the highly effective forms of contraception as specified in the protocol (with a failure rate of <1% per year when used consistently and correctly). Highly effective contraception or abstinence must be continued for the duration of the study, and for up to 30 days after the last dose of study drug.
- Fertile men who are sexually active with women of childbearing potential and who have not had a vasectomy, must agree to use a barrier method of birth control during the study and for up to 30 days after the last dose of study drug.
Key exclusion criteria (2 listed)
- Current participation in any other interventional study.
- Pregnancy or breast feeding.
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: PTC743Vatiquinone will be administered per dose and schedule specified in the arm description. | Drug | Vatiquinone |
Primary outcome
Number of Participants With Treatment-emergent Adverse Events (TEAEs)
Time frame: Baseline (Day 1) up to 30 days after last dose of study drug (956 days)
An adverse event (AE) was any untoward medical occurrence in a participant who received study drug without regard to possibility of causal relationship. AEs included both serious adverse events (SAEs) and non-serious AEs. A TEAE was defined as an AE that had an onset date or date of worsening on or after the first dose of study drug and within 30 days of the date of the last dose of treatment. A summary of other non-serious AEs and all SAEs, regardless of causality is located in the 'Reported AE section'.
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Dec 2025.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
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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
26 sites in 7 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 3 study testing Vatiquinone in people with Inherited Mitochondrial Disease, run by PTC Therapeutics at 26 sites in 7 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 3 inclusion and 2 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: finished, as of the sponsor's last update on 22 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 26 sites in United States, France, Spain, United Kingdom, Italy and 2 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. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
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 22 Dec 2025). 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?
Number of Participants With Treatment-emergent Adverse Events (TEAEs) (time frame: Baseline (Day 1) up to 30 days after last dose of study drug (956 days)). 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 22 Dec 2025.