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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 weeks3 visits

Treatment ~ Varies

Follow Up ~ baseline, week 13

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

Prothrombin time prolonged

Platelet count decreased

Goitre

Hyperammonaemia

Amylase increased

Red blood cell sedimentation rate increased

Hyperbilirubinaemia

Proteinuria

Rash

Status epilepticus

Adrenal insufficiency

Gastroenteritis viral

Hyperthyroidism

Neutrophil count decreased

Nasal congestion

Electrocardiogram QT prolonged

International normalised ratio increased

Hyperkalaemia

Hypercholesterolaemia

Lipase increased

White blood cell count decreased

Wheezing

100%

80%

60%

40%

20%

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

0 / 4Eligibility criteria met

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

Frequently Asked Questions

These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.

Are there any openings remaining for this clinical experiment?

"This clinical trial has since reached capacity and is no longer recruiting. As of November 17th 2022, this research posted on February 28th 2010 had concluded its participant recruitment. However, there are 18 ongoing studies for mitochondrial diseases as well as 4 trials involving EPI-743 that require enrollees."

Answered by AI

Is this medical experiment pioneering a new treatment approach?

"Currently, 4 active tests for EPI-743 are running concurrently in 27 cities and 13 countries. This treatment's journey began a decade ago with the PTC Therapeutics sponsored trial of 94 patients that reached Phase 2 drug approval status. Since then, 9 more experiments have been conducted."

Answered by AI

How much participation has this clinical trial garnered?

"Currently, the clinical trial is not enrolling any participants. The medical study was initially announced on February 28th 2010 and last updated November 17th 2022. There are various other trials open to those with mitochondrial diseases; 18 studies recruiting patients and 4 involving EPI-743 treatments actively searching for volunteers."

Answered by AI

In which areas is this research trial being conducted?

"Currently, 16 clinical trial sites across the US are actively enrolling patients. These locations include Los Angeles, Akron and San Diego with an additional 13 other nearby centres. Those interested in participating should consider their closest site to reduce travel time."

Answered by AI

What are the level of risk associated with utilizing EPI-743?

"Currently, the safety of EPI-743 is rated as a 2 due to a lack of clinical data indicating its efficacy. However, there have been studies demonstrating its general safety profile."

Answered by AI

Are there any previous experiments that have involved EPI-743?

"Currently, 4 trials are underway to understand the efficacy of EPI-743. Two of these studies have progressed to Phase 3. Although Orange County is a primary site for research on this medication, there are 62 other locations conducting investigations into its effects as well."

Answered by AI

Recent research and studies

clinicaltrials.govStudy

EPI-743 for Mitochondrial Respiratory Chain Diseases

2024. "EPI-743 for Mitochondrial Respiratory Chain Diseases". ClinicalTrials.gov. https://clinicaltrials.gov/ct2/show/NCT01370447.

All > Mitochondrial Disease