Vatiquinone Safety for Mitochondrial Disease

No longer recruiting at 36 trial locations

Overseen By Patient Advocacy

Age: Any Age

Sex: Any

Trial Phase: Phase 3

Sponsor: PTC Therapeutics

Disqualifiers: Other study, Pregnancy, Breastfeeding

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Pivotal Trial (Near Approval) This treatment is in the last trial phase before FDA approval

Prior Safety Data This treatment has passed at least one previous human trial

Compensation: Varies

Number of Visits: Unknown

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial focuses on testing the safety of vatiquinone for individuals with inherited mitochondrial diseases. These diseases affect cellular energy production and include conditions like Leigh syndrome or MELAS. Participants should have previously participated in a study or treatment plan involving vatiquinone. The trial aims to determine if vatiquinone can be safely used until it becomes available on the market or the program concludes. As a Phase 3 trial, it represents the final step before FDA approval, offering participants an opportunity to contribute to a treatment nearing market availability.

Do I need to stop my current medications for the trial?

The trial information does not specify whether you need to stop taking your current medications. It's best to discuss this with the trial coordinators or your doctor.

Is there any evidence suggesting that vatiquinone is likely to be safe for humans?

Research has shown that vatiquinone is generally safe and well-tolerated by patients. Studies have tested this treatment across different age groups without major safety concerns. Although some side effects have been reported, they are uncommon, and most people manage the treatment well. While specific side effects weren't detailed, the overall evidence supports the safety of vatiquinone. This should reassure anyone considering joining a trial with this drug. ^{1 2 3 4 5}

Why do researchers think this study treatment might be promising for mitochondrial disease?

Researchers are excited about vatiquinone for mitochondrial disease because it offers a unique approach to treatment. Unlike current therapies that often focus on managing symptoms or providing supportive care, vatiquinone targets oxidative stress at the cellular level. By addressing the root cause of mitochondrial dysfunction, it has the potential to improve cellular energy production and reduce disease progression. This new mechanism of action is what sets vatiquinone apart, giving hope for more effective management of mitochondrial diseases.

What is the effectiveness track record for vatiquinone in treating mitochondrial disease?

Research has shown that vatiquinone might help alleviate symptoms of mitochondrial diseases. In some studies, patients reported feeling less tired and showed improved scores on a fatigue scale. However, a study focused on seizures related to mitochondrial disease found that vatiquinone did not meet its primary goal of reducing seizure frequency. Early research suggests that vatiquinone can inhibit a type of cell death called ferroptosis, but it did not improve survival in some cases. While some benefits have been observed, the results remain mixed, necessitating further research to fully understand its potential for treating mitochondrial disease. Participants in this trial will receive vatiquinone to further evaluate its safety and effectiveness. ^{2 3 6 7 8}

Who Is on the Research Team?

Vinay Penematsa, MD

Principal Investigator

PTC Therapeutics

Are You a Good Fit for This Trial?

This trial is for people with inherited mitochondrial diseases who have previously taken vatiquinone in a study or treatment plan. Participants must not be pregnant, breastfeeding, or involved in another interventional study. Women of childbearing age and fertile men must agree to use effective contraception during the study.

Inclusion Criteria

You are a woman of childbearing potential who has a negative pregnancy test at screening/baseline and agrees to abstinence or the use of at least one 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)

I agree to use birth control during and up to 30 days after the study if I am a fertile man not having had a vasectomy.

I agree to use birth control during and up to 50 days after the study if I am a fertile man not vasectomized.

Exclusion Criteria

Current participation in any other interventional study.

Pregnancy or breast feeding.

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

Participants receive vatiquinone oral solution up to 400 mg, administered orally or via feeding tube 3 times daily

Follow-up

Participants are monitored for safety and effectiveness after treatment

Until vatiquinone becomes commercially available or the program is terminated

What Are the Treatments Tested in This Trial?

Interventions

• Vatiquinone

Trial Overview The safety of vatiquinone is being tested in individuals with inherited mitochondrial disease who have used it before. The trial will monitor participants until vatiquinone is available commercially or the program ends.

How Is the Trial Designed?

Group I: Vatiquinone Experimental Treatment 1 Intervention

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).

Who Is Running the Clinical Trial?

PTC Therapeutics

Lead Sponsor

Trials

75

Recruited

6,300+

Dr. Matthew B. Klein

PTC Therapeutics

Chief Executive Officer since 2023

BA from the University of Pennsylvania, MD from Yale University School of Medicine, MS in Epidemiology from the University of Washington School of Public Health

Dr. Stuart W. Peltz

PTC Therapeutics

Chief Medical Officer since 2023

MD from Harvard Medical School

Published Research Related to This Trial

In a study involving six patients with mitochondrial myopathy, bezafibrate was found to be safe with no significant adverse effects, and it improved mitochondrial function by reducing complex IV-immunodeficient muscle fibers and enhancing cardiac function over 12 weeks.

However, the treatment also led to increased serum biomarkers associated with mitochondrial disease and changes in fatty acid and amino acid metabolism, suggesting potential long-term risks that need further investigation.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Metabolic effects of bezafibrate in mitochondrial disease. Steele, H., Gomez-Duran, A., Pyle, A., et al.[2022]

Primary mitochondrial diseases are common inherited metabolic disorders affecting about 1 in 4,300 live births, but there are currently no licensed disease-modifying therapies, and most management is supportive.

Recent advances in therapy development have led to small molecules moving from preclinical studies to early-phase human trials, indicating progress in finding effective treatments for these complex disorders.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Moving towards clinical trials for mitochondrial diseases. Pitceathly, RDS., Keshavan, N., Rahman, J., et al.[2021]

Citations

1. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC11177993/

Evaluating the efficacy of vatiquinone in preclinical models ... Preliminary clinical and pre-clinical evidence suggests vatiquinone may benefits mitochondrial seizures, and cell-based data indicate vatiquinone should ...

2. ir.ptcbio.com ir.ptcbio.com/news-releases/news-release-details/ptc-therapeutics-announces-results-mit-e-clinical-trial?mobile=1

PTC Therapeutics Announces Results from MIT-E Clinical ... The MIT-E trial of vatiquinone for the treatment of mitochondrial disease associated seizures (MDAS) failed to achieve its primary endpoint of reduction in ...

3. ojrd.biomedcentral.com ojrd.biomedcentral.com/articles/10.1186/s13023-025-03582-x

Evaluating the efficacy of vatiquinone in preclinical models of ... Vatiquinone prevents ferroptosis, but fails to attenuate cell death induced by paraquat or rotenone and provided no significant benefit to survival in two ...

4. newenglandconsortium.org newenglandconsortium.org/vatiquinone-for-treating-mitochondrial-disease-in-participants-with-refractory-epilepsy-mite

Vatiquinone for Treating Mitochondrial Disease in ... The purpose of this study is to evaluate the efficacy and safety of vatiquinone in reducing the frequency of observable motor seizures in patients with ...

5. curefa.org curefa.org/drug-development/vatiquinone-ptc-743/

Vatiquinone (PTC-743) There was significant improvement in the patient reported outcome measure of fatigue, the Modified Fatigue Scale (nominal p value of 0.025). The vatiquinone ...

6. clinicaltrials.gov clinicaltrials.gov/study/NCT05218655

NCT05218655 | A Safety Study for Previously Treated ... The primary objective of this study is to assess the safety of vatiquinone in participants with inherited mitochondrial disease who had prior exposure to ...

7. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC11812209/

Evaluating the efficacy of vatiquinone in preclinical models ... Vatiquinone robustly prevented death in cultured cells induced by RSL3 or BSO/iron, but had no effect on paraquat induced cell death.

8. aesnet.org aesnet.org/abstractslisting/mit-e--efficacy-and-safety-study-of-vatiquinone-for-the-treatment-of-mitochondrial-disease-(md)-subjects-with-refractory-epilepsy

MIT-E--Efficacy-and-Safety-Study-of-Vatiquinone-for-the ... MIT-E is a phase 2/3 randomized, placebo-controlled study of vatiquinone for the treatment of mitochondrial disease associated seizures. Methods ...