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Antioxidant
EPI-743 for Mitochondrial Disease
N/A
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
Must not have
Renal insufficiency requiring dialysis
Clinical history of bleeding or abnormal prothrombin time (PT)/partial thromboplastin time (PTT) (excluding anticoagulation Rx)
Timeline
Screening 3 weeks
Treatment Varies
Follow Up baseline, week 13
Awards & highlights
No Placebo-Only Group
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.
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.
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 belowSelect...
I have not taken idebenone.
Select...
I have been diagnosed with mitochondrial disease without genetic proof.
Select...
I have a genetic diagnosis of mitochondrial disease.
Select...
My blood's hematocrit levels are within the normal range for my age.
Exclusion Criteria
You may be eligible for the trial if you check “No” for criteria below:Select...
I require dialysis for kidney failure.
Select...
I have a history of bleeding or abnormal blood clotting times not due to blood thinners.
Select...
I have severe heart failure causing poor blood flow to organs and high lactic acid.
Select...
My liver tests are more than twice the normal levels.
Select...
I have a condition that prevents my body from absorbing drugs properly.
Timeline
Screening ~ 3 weeks3 visits
Treatment ~ Varies
Follow Up ~ baseline, week 13
Screening ~ 3 weeks
Treatment ~ Varies
Follow Up ~baseline, week 13
Treatment Details
Study Objectives
Study objectives can provide a clearer picture of what you can expect from a treatment.Primary study objectives
Number of Participants Experiencing Adverse Events
Secondary study objectives
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 • NCT0164205650%
Blood creatine phosphokinase increased
20%
Aspartate aminotransferase increased
20%
Alanine aminotransferase increased
20%
Vomiting
15%
Activated partial thromboplastin time prolonged
15%
Hypothyroidism
10%
Blood alkaline phosphatase increased
10%
Hospitalisation
10%
Hypernatraemia
10%
Cough
10%
Upper respiratory tract irritation
10%
Polycythaemia
10%
Hypoglycaemia
5%
Amylase increased
5%
Hyperkalaemia
5%
Hyperammonaemia
5%
Platelet count decreased
5%
Prothrombin time prolonged
5%
Goitre
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%
Hypercholesterolaemia
5%
Lipase increased
5%
White blood cell count decreased
5%
Wheezing
100%
80%
60%
40%
20%
0%
Study treatment Arm
Placebo
EPI-743
Awards & Highlights
No Placebo-Only Group
All patients enrolled in this study will receive some form of active treatment.
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
6,287 Total Patients Enrolled
Gregory Enns, MB, ChBPrincipal InvestigatorStanford University