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Antioxidant

EPI-743 for Mitochondrial Disease

Phase 2
Waitlist Available
Led By Gregory Enns, MB, ChB
Research Sponsored by PTC Therapeutics
Eligibility Criteria Checklist
Specific guidelines that determine who can or cannot participate in a clinical trial
Must have
Abstention from use of idebenone
Participants with clinical diagnosis: Diagnosis of inherited mitochondrial disease absent genetic confirmation; Specifically, participants must meet the diagnostic criteria of 'definite' or 'probable' mitochondrial disease as defined by Bernier et al., 2002
Timeline
Screening 3 weeks
Treatment Varies
Follow Up baseline, week 13
Awards & highlights

Study Summary

This trial will study a new drug for people with severe mitochondrial respiratory chain diseases who are close to the end of their life. The goal is to see if the drug is safe and effective.

Who is the study for?
This trial is for people over one year old with severe mitochondrial diseases, confirmed genetically or clinically. They should be near end-of-life care, have normal blood counts, and agree to avoid certain supplements and foods. Exclusions include allergies to EPI-743 ingredients, abnormal bleeding risks, pregnancy, liver or kidney issues requiring dialysis, fat absorption problems, and other metabolic disorders.Check my eligibility
What is being tested?
The study tests the safety and effectiveness of a drug called EPI-743 on patients with serious mitochondrial respiratory chain diseases who are close to needing end-of-life care. It aims to see if this treatment can help improve their condition.See study design
What are the potential side effects?
While specific side effects of EPI-743 aren't listed here, common ones may include allergic reactions due to its components like vitamin E or sesame oil. Patients might also experience issues related to the digestive system's ability to absorb fats.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below
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I have not taken idebenone.
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I have been diagnosed with mitochondrial disease without genetic proof.
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I have a genetic diagnosis of mitochondrial disease.
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My blood's hematocrit levels are within the normal range for my age.

Timeline

Screening ~ 3 weeks
Treatment ~ Varies
Follow Up ~baseline, week 13
This trial's timeline: 3 weeks for screening, Varies for treatment, and baseline, week 13 for reporting.

Treatment Details

Study Objectives

Outcome measures can provide a clearer picture of what you can expect from a treatment.
Primary outcome measures
Number of Participants Experiencing Adverse Events
Secondary outcome measures
Change From Baseline in Neurological Function, as Determined by Standard Neurological Examination at Week 13
Change From Baseline in Newcastle Pediatric Mitochondrial Disease Score (NPMDS) at Week 13

Side effects data

From 2019 Phase 1 & 2 trial • 20 Patients • NCT01642056
50%
Blood creatine phosphokinase increased
20%
Vomiting
20%
Alanine aminotransferase increased
20%
Aspartate aminotransferase increased
15%
Activated partial thromboplastin time prolonged
15%
Hypothyroidism
10%
Hospitalisation
10%
Blood alkaline phosphatase increased
10%
Hypernatraemia
10%
Cough
10%
Upper respiratory tract irritation
10%
Polycythaemia
10%
Hypoglycaemia
5%
Platelet count decreased
5%
Prothrombin time prolonged
5%
Goitre
5%
Hyperammonaemia
5%
Amylase increased
5%
Red blood cell sedimentation rate increased
5%
Hyperbilirubinaemia
5%
Proteinuria
5%
Rash
5%
Status epilepticus
5%
Adrenal insufficiency
5%
Gastroenteritis viral
5%
Hyperthyroidism
5%
Neutrophil count decreased
5%
Nasal congestion
5%
Electrocardiogram QT prolonged
5%
International normalised ratio increased
5%
Hyperkalaemia
5%
Hypercholesterolaemia
5%
Lipase increased
5%
White blood cell count decreased
5%
Wheezing
100%
80%
60%
40%
20%
0%
Study treatment Arm
Placebo
EPI-743

Trial Design

1Treatment groups
Experimental Treatment
Group I: EPI-743Experimental Treatment1 Intervention
Participants will receive EPI-743 at a dose of 50 milligrams (mg) at Day 1, 50 mg twice daily for 13 days, 100 mg on Day 15, and 100 mg twice daily until Day 28; either by mouth with a meal or via their G-tube with feeds. In the absence of clinical or laboratory indications of any safety concerns, participants will receive 100 mg EPI-743 three times daily until end of study.
Treatment
First Studied
Drug Approval Stage
How many patients have taken this drug
EPI-743
2014
Completed Phase 2
~170

Find a Location

Who is running the clinical trial?

PTC TherapeuticsLead Sponsor
74 Previous Clinical Trials
6,230 Total Patients Enrolled
Gregory Enns, MB, ChBPrincipal InvestigatorStanford University
~233 spots leftby Jun 2025
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