EPI-743 for Metabolism or Mitochondrial Disorders (NCT01642056) | Clinical Trial Compass
CompletedPhase 1/2
EPI-743 for Metabolism or Mitochondrial Disorders
United States20 participantsStarted 2012-09-01
Plain-language summary
Background:
* Mitochondria are the parts of cells that help produce energy. Metabolism is the process by which the body uses energy to help cells grow and reproduce. Metabolic and mitochondrial disorders affect the body s ability to produce and store energy. These disorders can cause a wide variety of problems, but most often they affect the muscles and the brain, where energy requirements are high. Treatment is difficult because the exact source of the problem is hard to detect.
* EPI-743 is a new drug that is based on vitamin E. Tests have shown that it can help improve the function of cells with mitochondrial problems. It may be able to treat people with genetic disorders that affect metabolism and mitochondria.
Objectives:
\- To see if EPI-743 can improve energy production and use in people with mitochondrial or metabolic disorders.
Eligibility:
\- Children between 2 and 11 years of age who have metabolic or mitochondrial problems.
Design:
* Participants will be screened with a physical exam and medical history. Blood and urine samples will be collected.
* The study will last about 13 months. Participants will have seven 3- to 5-day inpatient study visits about 3 months apart.
* Participants will take either EPI-743 or a placebo for the first 6 months of the study. After 6 months, there will be a 1-month rest period. Then, those who received EPI-743 in the first 6 months will take the placebo for the next 6 months. Those who had the placebo will take EPI-743.
* During each inpatient study visit, participants will have a physical exam. A 24-hour urine collection will be obtained. Blood samples will also be taken. Imaging studies and other tests may be performed as directed by the study researchers.
Who can participate
Age range
2 Years – 11 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
* INCLUSION CRITERIA:
Inclusion criteria involve enrollment in protocol 76-HG-0238, Diagnosis and Treatment of Patients with Inborn Errors of Metabolism and Other Genetic Disorders . In addition, patients must:
* Be 2-11 years of age
* Manifest clinical findings of a neuromuscular disease with a component of impaired energy or oxidation/reduction. Typical symptoms would include hypotonia, dystonia, or seizures.
* Have a disorder that is untreatable or poorly treatable.
* Have cultured fibroblasts that exhibit reduced viability under conditions of oxidative stress, compared to age matched control fibroblasts.
* Have cultured fibroblasts that achieve at least 80% viability rescue with EPI-743 at 1micromolar upon exposure to oxidative stress and that have a half maximal effective concentration of EPI-743 of less than or equal to 50 nanomolar.
* Be willing to abstain from initiating the use of dietary supplements and nonprescribed medications, foods or beverages or bars fortified with coenzyme Q(10), vitamin E, super fortified functional foods or beverages, and idebenone.
* Be able to travel to the Clinical Center for at least 8 visits.
EXCLUSION CRITERIA:
* Age \< 2 years or \>11 years
* Diagnosis of mitochondrial diseases benefiting from treatment and at risk from being moved to placebo
* Allergy to EPI-743 or sesame oil
* Hepatic insufficiency with liver function tests greater than 3-times the upper limit of normal
* Renal insufficiency requiring dialysis
* Significant mal…
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) Part I-III, Baseline
Timeframe: Baseline - Day 0
2
Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) Part I-III, 6 Months
Timeframe: 6 months
3
Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) Part I-III, Post Washout
Timeframe: 8 month - Post washout
4
Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) Part I-III, 14 Months
Timeframe: 14 months
Trial details
NCT IDNCT01642056
SponsorNational Human Genome Research Institute (NHGRI)