Vatiquinone Safety for Mitochondrial Disease

Recruiting at 31 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

102 Participants Needed

Trial Summary

What is the purpose of this trial?

This trial is testing the safety of vatiquinone, a medication that helps cells produce energy, in people with inherited mitochondrial disease. These participants have already used vatiquinone in previous studies. The study will continue for an extended period. Vatiquinone, also known as EPI-743, is a new oral antioxidant that has been evaluated for mitochondrial diseases.

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.

What data supports the effectiveness of the drug Vatiquinone for mitochondrial disease?

The research highlights that while many clinical trials for mitochondrial diseases have been conducted, few have shown significant benefits. However, there have been advances in therapy development, with small molecules moving to early human studies, suggesting potential for future treatments. ^{1 2 3 4 5}

How does the drug Vatiquinone differ from other treatments for mitochondrial disease?

Vatiquinone is unique because it is a novel oral potent 2-electron redox cycling agent, which means it helps manage oxidative stress in cells, a key issue in mitochondrial diseases. Unlike some other treatments that focus on increasing energy production or targeting specific genetic mutations, Vatiquinone's mechanism of action is centered on reducing oxidative damage, potentially offering a different therapeutic approach. ^{1 6 7 8 9}

Research Team

Vinay Penematsa, MD

Principal Investigator

PTC Therapeutics

Eligibility Criteria

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

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

Treatment Details

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.

Participant Groups

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

Findings from Research

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]

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]

References

1. United States pubmed.ncbi.nlm.nih.gov

Review of clinical trials for mitochondrial disorders: 1997-2012. [2021]

2. United States pubmed.ncbi.nlm.nih.gov

Moving towards clinical trials for mitochondrial diseases. [2021]

3. England pubmed.ncbi.nlm.nih.gov

Towards the harmonization of outcome measures in children with mitochondrial disorders. [2022]

4. United States pubmed.ncbi.nlm.nih.gov

Mitochondrial diseases in North America: An analysis of the NAMDC Registry. [2022]

5. United States pubmed.ncbi.nlm.nih.gov

Emerging aspects of treatment in mitochondrial disorders. [2019]

6. United States pubmed.ncbi.nlm.nih.gov

Drug-induced mitochondrial neuropathy in children: a conceptual framework for critical windows of development. [2014]

7. England pubmed.ncbi.nlm.nih.gov

Metabolic effects of bezafibrate in mitochondrial disease. [2022]

8. United States pubmed.ncbi.nlm.nih.gov

Beneficial effects of creatine, CoQ10, and lipoic acid in mitochondrial disorders. [2022]

9. United States pubmed.ncbi.nlm.nih.gov

The pursuit of precision mitochondrial medicine: Harnessing preclinical cellular and animal models to optimize mitochondrial disease therapeutic discovery. [2022]