EPI-743 for Mitochondrial Respiratory Chain Diseases
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT01370447|
Recruitment Status : Active, not recruiting
First Posted : June 10, 2011
Last Update Posted : July 17, 2019
|Condition or disease||Intervention/treatment||Phase|
|Mitochondrial Diseases||Drug: EPI-743||Phase 2|
|Study Type :||Interventional (Clinical Trial)|
|Actual Enrollment :||87 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Official Title:||Emergency Use Protocol for EPI-743 in Acutely Ill Patients With Inherited Mitochondrial Respiratory Chain Disease Within 90 Days of End-of-Life Care|
|Study Start Date :||February 2010|
|Estimated Primary Completion Date :||December 2021|
|Estimated Study Completion Date :||December 2021|
Experimental: EPI-743 Treatment
Single treatment arm; All enrolled subjects will be treated with EPI-743
EPI-743 is administered as a dose escalation from 50 mg bid to 100 mg tid
- Change in neuromuscular function from baseline to 13 weeks [ Time Frame: Monthly for 13 weeks ]Neurological exams to determine neuro-muscular function, which is typically compromised in patients with inherited mitochondrial diseases. Standard clinical neurological/neuromuscular assessment scales will be used
- Number of subjects experiencing adverse events [ Time Frame: Al least monthly for 13 weeks ]Standard laboratory tests to evaluate organ function will be used to assess adverse effects on organ systems and function. Electrocardiograms will be recorded to assess any effect on cardiac conduction. Subjects will be monitored for any clinical adverse signs at least monthly, and more frequently if patient condition warrants. In each case of reported adverse events, an assessment will be made if the event is due to EPI-743 administration or to underlying/intercurrent disease.
- Change in Newcastle Pediatric Mitochondrial Disease Score from baseline at 13 weeks [ Time Frame: At baseline and at 13 weeks ]The Newcastle Pediatric Mitochondrial Disease Score (NPMDS)is a validated scale to assess the clinical severity of mitochondrial disease. The NPMDS will be scored at baseline and at 13 weeks, and the difference will be assessed as improved, stable or deteriorated.
- Pharmacokinetics of EPI-743 after first dose and at steady state [ Time Frame: At the beginning of the study (baseline) and after 4 weeks of treatment ]Serial blood samples (4-8 samples, 1.5 mL)will be drawn after the first dose of 50 mg and after the first dose escalation to 100 mg. Plasma concentrations ofEPI-743 will be analyzed and pharmacokinetic parameters calculated.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01370447
|United States, California|
|Lucille Packard Children's Hospital|
|Palo Alto, California, United States, 94304|
|Principal Investigator:||Gregory Enns, MB, ChB||Stanford University|