A Safety Study for Previously Treated Vatiquinone (PTC743) Participants With Inherited Mitochondrial Disease

December 18, 2025 updated by: PTC Therapeutics

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Actual)

101

Phase

  • Phase 3

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Angers, France, 49933
        • CHU Angers
      • Montpellier, France, 34295
        • CHU Montpellier - Hôpital Saint-Eloi
      • Paris, France, 75015
        • Hôpital Necker-Enfants Malades
      • Strasbourg, France, 67000
        • Hôpital de Hautepierre - Hôpitaux Universitaires de Strasbourg
  • Italy
      • Roma, Italy, 00165
        • Ospedale Pediatrico Bambino Gesu
  • Japan
      • Japanese City, Japan
        • PTC Clinical Site
  • Poland
      • Warsaw, Poland, 04-730
        • Instytut Pomnik - Centrum Zdrowia Dziecka
  • Spain
      • Barcelona, Spain, 08950
        • Hospital Sant Joan de Déu
      • Madrid, Spain, 28034
        • Hospital Ruber Internacional
      • Madrid, Spain, 28003
        • Hospital Universitario 12 de Octubre
  • United Kingdom
      • London, United Kingdom, WC1N 3JH
        • Great Ormond Street Hospital for Children NHS foundation trust
      • Newcastle upon Tyne, United Kingdom, NE1 4LP
        • The Newcastle Upon Tyne Hospitals NHS Foundation Trust
  • United States
    • California
      • La Jolla, California, United States, 92037
        • University of California, San Diego Altman Clinical and Translational Research Institute
      • Stanford, California, United States, 94305
        • Stanford University
    • Connecticut
      • New Haven, Connecticut, United States, 06511
        • Yale Medicine
    • District of Columbia
      • Washington D.C., District of Columbia, United States, 20010
        • Children's National
    • Florida
      • Gulf Breeze, Florida, United States, 32561
        • Child Neurology Center of Northwest Florida
    • Maryland
      • Baltimore, Maryland, United States, 21205
        • The Johns Hopkins University
    • New York
      • New York, New York, United States, 10032
        • Columbia University Medical Center - CUMC
    • Ohio
      • Akron, Ohio, United States, 44308
        • Akron Children's Hospital
      • Cleveland, Ohio, United States, 44195
        • Cleveland Clinic
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • Children's Hospital of Philadelphia - CHOP
    • South Carolina
      • Charleston, South Carolina, United States, 29425
        • Medical University of South Carolina - MUSC
    • Texas
      • Houston, Texas, United States, 77030
        • Baylor College of Medicine
      • Houston, Texas, United States, 77030
        • UT Health The University of Texas
    • Washington
      • Seattle, Washington, United States, 98105
        • Seattle Children Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Description

Inclusion Criteria:

  • 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.

Exclusion Criteria:

  • Current participation in any other interventional study.
  • Pregnancy or breast feeding.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Treatment
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Vatiquinone
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).
Drug: Vatiquinone
Vatiquinone will be administered per dose and schedule specified in the arm description.
Other Names:
  • PTC743

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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'.
Baseline (Day 1) up to 30 days after last dose of study drug (956 days)

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

PTC Therapeutics

Investigators

  • Study Director: Vinay Penematsa, MD, PTC Therapeutics

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

June 22, 2022

Primary Completion (Actual)

April 15, 2025

Study Completion (Actual)

April 15, 2025

Study Registration Dates

First Submitted

January 19, 2022

First Submitted That Met QC Criteria

January 19, 2022

First Posted (Actual)

February 1, 2022

Study Record Updates

Last Update Posted (Estimated)

December 22, 2025

Last Update Submitted That Met QC Criteria

December 18, 2025

Last Verified

December 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • PTC743-CNS-005-LSEP
  • 2022-000375-39 (EudraCT Number)

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

Yes

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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