EPI-743 for Metabolism or Mitochondrial Disorders

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.

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