Clinical Trial: EPI-743 for Mitochondrial Respiratory Chain Diseases

Study Status: Active, not recruiting
Recruit Status: Active, not recruiting
Study Type: Interventional

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

Brief Summary: This study evaluates the safety and efficacy of EPI-743 in patients with severe mitochondrial respiratory chain diseases who are considered to be within 90 days of end-of-life care.

Detailed Summary:
Sponsor: Edison Pharmaceuticals Inc

Current Primary Outcome:

  • 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.


Original Primary Outcome: Same as current

Current Secondary Outcome: 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.


Original Secondary Outcome: Same as current

Information By: Edison Pharmaceuticals Inc

Dates:
Date Received: June 7, 2011
Date Started: February 2010
Date Completion: December 2017
Last Updated: March 18, 2016
Last Verified: March 2016