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

NCT05218655 | Completed Phase 3 Results FDA Drug

• 2 other identifiers: PTC743-CNS-005-LSEP2022-000375-39
• Study Type: interventional
• Target: 101
• Locations: 7 countries
• Sites: 26

Brief 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. The study will continue until vatiquinone becomes commercially available or the program is terminated.

Conditions

Inherited Mitochondrial Disease

Keywords

Leigh syndrome; Alpers Syndrome; mitochondrial encephalomyopathy; MELAS; MERRF; PCH6; refractory epilepsy

Outcome Measures

Primary Outcomes (1)

• 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'.

  Baseline (Day 1) up to 30 days after last dose of study drug (956 days)

Study Arms (1)

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).

Drug: Vatiquinone

Interventions

Vatiquinone DRUG

Vatiquinone will be administered per dose and schedule specified in the arm description.

Also known as: PTC743

Vatiquinone

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

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

Sponsors & Collaborators

• PTC Therapeutics: lead

Study Sites (26)

University of California, San Diego Altman Clinical and Translational Research Institute

La Jolla, California, 92037, United States

Location

Stanford University

Stanford, California, 94305, United States

Location

Yale Medicine

New Haven, Connecticut, 06511, United States

Location

Children's National

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

Location

Child Neurology Center of Northwest Florida

Gulf Breeze, Florida, 32561, United States

Location

The Johns Hopkins University

Baltimore, Maryland, 21205, United States

Location

Columbia University Medical Center - CUMC

New York, New York, 10032, United States

Location

Akron Children's Hospital

Akron, Ohio, 44308, United States

Location

Cleveland Clinic

Cleveland, Ohio, 44195, United States

Location

Children's Hospital of Philadelphia - CHOP

Philadelphia, Pennsylvania, 19104, United States

Location

Medical University of South Carolina - MUSC

Charleston, South Carolina, 29425, United States

Location

Baylor College of Medicine

Houston, Texas, 77030, United States

Location

UT Health The University of Texas

Houston, Texas, 77030, United States

Location

Seattle Children Hospital

Seattle, Washington, 98105, United States

Location

Chu Angers

Angers, 49933, France

Location

CHU Montpellier - Hopital Saint-Eloi

Montpellier, 34295, France

Location

Hopital Necker-Enfants Malades

Paris, 75015, France

Location

Hôpital de Hautepierre - Hôpitaux Universitaires de Strasbourg

Strasbourg, 67000, France

Location

Ospedale Pediatrico Bambino Gesù

Roma, 00165, Italy

Location

PTC Clinical Site

Japanese City, Japan

Location

Instytut Pomnik - Centrum Zdrowia Dziecka

Warsaw, 04-730, Poland

Location

Hospital Sant Joan de Déu

Barcelona, 08950, Spain

Location

Hospital Universitario 12 de Octubre

Madrid, 28003, Spain

Location

Hospital Ruber Internacional

Madrid, 28034, Spain

Location

Great Ormond Street Hospital for Children NHS Foundation Trust

London, WC1N 3JH, United Kingdom

Location

The Newcastle Upon Tyne Hospitals NHS Foundation Trust

Newcastle upon Tyne, NE1 4LP, United Kingdom

Location

MeSH Terms

Conditions

Leigh Disease; Diffuse Cerebral Sclerosis of Schilder; Mitochondrial Encephalomyopathies; MELAS Syndrome; MERRF Syndrome; Drug Resistant Epilepsy

Interventions

alpha-tocotrienol quinone

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pyruvate Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Mitochondrial Diseases; Demyelinating Autoimmune Diseases, CNS; Autoimmune Diseases of the Nervous System; Leukoencephalopathies; Demyelinating Diseases; Autoimmune Diseases; Immune System Diseases; Mitochondrial Myopathies; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Myoclonic Epilepsies, Progressive; Epilepsies, Myoclonic; Epilepsy, Generalized; Epilepsy; Epileptic Syndromes

Limitations and Caveats

The study was terminated early as PTC discontinued clinical development of vatiquinone for this indication based on prior clinical study results.

Results Point of Contact

• Title: Patient Advocacy
• Organization: PTC Therapeutics, Inc.

medinfo@ptcbio.com

1-866-562-4620

Study Officials

• Vinay Penematsa, MD

  PTC Therapeutics

  STUDY DIRECTOR

Publication Agreements

• PI is Sponsor Employee: No
• Restriction Type: OTHER
• Restrictive Agreement: Yes

Study Design

• Study Type: interventional
• Phase: phase 3
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 19, 2022
• First Posted: February 1, 2022
• Study Start: June 22, 2022
• Primary Completion: April 15, 2025
• Study Completion: April 15, 2025
• Last Updated: December 22, 2025
• Results First Posted: December 22, 2025

Record last verified: 2025-12

Locations

GB (2); US (14); ES (3); JP (1); IT (1); PL (1); FR (4)