A Study of Vatiquinone for the Treatment of Participants With Friedreich Ataxia

An Open-Label Study to Evaluate Pharmacokinetics, Safety, and Efficacy of Vatiquinone in Children With Friedreich Ataxia Younger Than 7 Years of Age

The primary objective of the study is to assess the pharmacokinetics (PK) and safety of vatiquinone administered in participants with Friedreich ataxia (FA) younger than 7 years.

Study Overview

• Status: Completed
• Conditions: Friedreich Ataxia
• Intervention / Treatment: Drug: Vatiquinone

• Study Type: Interventional
• Enrollment (Actual): 5
• Phase: Phase 2

Contacts and Locations

Study Locations

• United States
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104
      • The Children's Hospital of Philadelphia

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 6 years (Child)
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• Friedreich ataxia diagnosis (homozygous for GAA repeat expansion in intron-1 of FXN gene), confirmed by clinical genetic testing.
• Must be able to abstain from anticoagulants and any aspirin (including 81 mg) for 30 days before the Baseline Visit and for the duration of the study; any possible discontinuation of anticoagulants should be monitored and indicated by a specialist (for example, cardiologist, neurologist, or hematologist), and discontinuation will be noted by the prescribing physician.
• Must be able to abstain from strong cytochrome P450 (CYP) 3A4 inducers/inhibitors (for example, ketoconazole, rifampin, St. John's wort, grapefruit juice, or any grapefruit product) for at least 30 days prior to enrollment and for the duration of the study.
• Must be able to take vatiquinone oral solution with food.

Exclusion Criteria:

• Previous treatment with vatiquinone.
• Allergy to vatiquinone or sesame oil.
• Ejection fraction <50%.
• Participation in any other interventional clinical trial or receipt of any study drug in any other clinical trial within 60 days prior to the Baseline Visit. Participants may be rescreened after the exclusionary period of 60 days has passed.
• Concomitant use of interventional CoQ10, vitamin E, or any approved or non-approved medication for FA within 30 days prior to the Baseline Visit. These prohibited medications can be discontinued at the Screening Visit.

Note: Other inclusion and exclusion criteria may apply.

Study Plan

How is the study designed?

Design Details

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

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Vatiquinone; Participants will receive an oral solution (100 milligrams [mg]/milliliter [mL]) of vatiquinone (15 mg/kilogram [kg] if body weight <13 kg and 200 mg if body weight ≥13 kg) 3 times a day (TID) for 72 weeks.	Drug: Vatiquinone; Vatiquinone will be administered per dose and schedule specified in the arm.; Other Names: PTC743; EPI-743

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Plasma Concentration of Vatiquinone	Pre-morning dose (0 hour) at Week 4; 1 to 3 hours and 3 to 6 hours post-morning dose at Weeks 4, 12, and 24
Area Under the Curve (AUC) of Vatiquinone	Pre-morning dose (0 hour) at Week 4; 1 to 3 hours and 3 to 6 hours post-morning dose at Weeks 4, 12, and 24
Number of Participants With Adverse Events	Baseline up to Week 76

Collaborators and Investigators

• Sponsor: PTC Therapeutics

Study record dates

Study Major Dates

• Study Start (Actual): October 12, 2022
• Primary Completion (Actual): August 29, 2024
• Study Completion (Actual): August 29, 2024

Study Registration Dates

• First Submitted: August 1, 2022
• First Submitted That Met QC Criteria: August 1, 2022
• First Posted (Actual): August 3, 2022

Study Record Updates

• Last Update Posted (Actual): August 22, 2025
• Last Update Submitted That Met QC Criteria: August 20, 2025
• Last Verified: August 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Neurologic Manifestations; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Metabolic Diseases; Neurodegenerative Diseases; Heredodegenerative Disorders, Nervous System; Spinal Cord Diseases; Dyskinesias; Mitochondrial Diseases; Cerebellar Diseases; Spinocerebellar Degenerations; Ataxia; Cerebellar Ataxia; Friedreich Ataxia
• Other Study ID Numbers: PTC743-NEU-005-FA

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: Yes
• Studies a U.S. FDA-regulated device product: No