EPI-743 for Metabolism or Mitochondrial Disorders
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ClinicalTrials.gov Identifier: NCT01642056 |
Recruitment Status :
Completed
First Posted : July 17, 2012
Results First Posted : April 14, 2021
Last Update Posted : April 14, 2021
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Tracking Information | |||||
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First Submitted Date ICMJE | July 14, 2012 | ||||
First Posted Date ICMJE | July 17, 2012 | ||||
Results First Submitted Date ICMJE | February 19, 2021 | ||||
Results First Posted Date ICMJE | April 14, 2021 | ||||
Last Update Posted Date | April 14, 2021 | ||||
Study Start Date ICMJE | September 1, 2012 | ||||
Actual Primary Completion Date | September 24, 2019 (Final data collection date for primary outcome measure) | ||||
Current Primary Outcome Measures ICMJE |
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Original Primary Outcome Measures ICMJE |
Newcastle Paediatric Mitochondrial Disease [ Time Frame: every 3 months ] | ||||
Change History | |||||
Current Secondary Outcome Measures ICMJE | Not Provided | ||||
Original Secondary Outcome Measures ICMJE |
Various bichemcial and clinical measures [ Time Frame: every 3 months ] | ||||
Current Other Pre-specified Outcome Measures | Not Provided | ||||
Original Other Pre-specified Outcome Measures | Not Provided | ||||
Descriptive Information | |||||
Brief Title ICMJE | EPI-743 for Metabolism or Mitochondrial Disorders | ||||
Official Title ICMJE | Therapeutic Trial of EPI -743 In Patients With Disorders of Energy Utilization or Oxidation-Reduction | ||||
Brief Summary | Background:
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:
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Detailed Description | The clinical manifestations of disorders of energy metabolism and defects in oxidation/reduction are similar because the basic defect involves the inability to transfer electrons. The same is true for many mitochondrial diseases. Affected patients exhibit a wide variety of signs and symptoms, but the most frequent and earliest dysfunctions occur in the muscle and brain, where energy requirements are high. The diagnosis of this type of defect is problematic because of the nonspecific and protean clinical manifestations of these disorders. Treatment is equally challenging, since the exact locus of the primary defect generally remains enigmatic. As a consequence, physicians rely upon generic cocktails of vitamin co-factors or endogenous intermediates intended to enhance mitochondrial electron transport, diminish the damage of reactive oxygen species, and promote energy production. The field is such a morass that, in general, it calls for trial-and-error treatment based upon empiric data. Edison Pharmaceuticals, Inc, has developed an in vitro assay that utilizes patient fibroblasts to model the innate susceptibility to oxidative stress caused by the disorders of energy metabolism and oxidation/reduction. The assay system also determines if the cells respond with increased viability to an IND drug called EPI-743. We propose a clinical trial that enrolls 20 children who meet three criteria. First, they must have a disorder that, based upon studies performed in a clinical protocol such as 76-HG-0238 ("Diagnosis and Treatment of Patients with Inborn Errors of Metabolism and Other Genetic Disorders"), is consistent with a defect in energy metabolism or oxidation/reduction. Second, their cultured fibroblasts must exhibit a defect in the ability to withstand oxidant stress. Third, their fibroblasts must respond to EPI-743 in vitro by showing improved viability under conditions of oxidative stress. This protocol is a double-blind, placebo-controlled crossover study with 6-month periods of treatment and a two-month washout period. Patients will be admitted to the NIH Clinical Center for 2-5 days every 3 months. The primary outcome measure will be quality of life based upon the Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) for ages 2-11 years; parts IIII will be evaluated separately from part IV. Secondary outcome measures will be tailored to each patient's laboratory, imaging, and clinical abnormalities. Results while receiving EPI-743 will be compared to results while receiving placebo; both repeated measures analyses and Student's t test will be employed. |
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Study Type ICMJE | Interventional | ||||
Study Phase ICMJE | Phase 1 Phase 2 |
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Study Design ICMJE | Allocation: Non-Randomized Intervention Model: Crossover Assignment Masking: Double (Participant, Investigator) Primary Purpose: Treatment |
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Condition ICMJE |
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Intervention ICMJE |
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Study Arms ICMJE |
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Publications * |
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* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
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Recruitment Information | |||||
Recruitment Status ICMJE | Completed | ||||
Actual Enrollment ICMJE |
20 | ||||
Original Estimated Enrollment ICMJE | Same as current | ||||
Actual Study Completion Date ICMJE | September 24, 2019 | ||||
Actual Primary Completion Date | September 24, 2019 (Final data collection date for primary outcome measure) | ||||
Eligibility Criteria ICMJE |
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:
EXCLUSION CRITERIA:
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Sex/Gender ICMJE |
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Ages ICMJE | 2 Years to 11 Years (Child) | ||||
Accepts Healthy Volunteers ICMJE | No | ||||
Contacts ICMJE | Contact information is only displayed when the study is recruiting subjects | ||||
Listed Location Countries ICMJE | United States | ||||
Removed Location Countries | |||||
Administrative Information | |||||
NCT Number ICMJE | NCT01642056 | ||||
Other Study ID Numbers ICMJE | 120161 12-HG-0161 |
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Has Data Monitoring Committee | Not Provided | ||||
U.S. FDA-regulated Product |
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IPD Sharing Statement ICMJE | Not Provided | ||||
Current Responsible Party | National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ) | ||||
Original Responsible Party | William A. Gahl, M.D./National Human Genome Research Institute, National Institutes of Health | ||||
Current Study Sponsor ICMJE | National Human Genome Research Institute (NHGRI) | ||||
Original Study Sponsor ICMJE | Same as current | ||||
Collaborators ICMJE | Not Provided | ||||
Investigators ICMJE |
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PRS Account | National Institutes of Health Clinical Center (CC) | ||||
Verification Date | December 9, 2019 | ||||
ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP |