Clinical Trial: Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome

Study Status: Completed
Recruit Status: Completed
Study Type: Interventional

Official Title: A Phase 2B Randomized, Placebo Controlled, Double Blind Clinical Trial of EPI-743 in Children With Leigh Syndrome

Brief Summary: The purpose of this study is to evaluate the effects of EPI-743 in children with Leigh syndrome on disease severity, neuromuscular function, respiratory function, disease morbidity and mortality and disease associated biomarkers.

Detailed Summary:

The purpose of this study is to evaluate the effects of EPI-743 in patient with Leigh syndrome on disease severity, neuromuscular function, respiratory function, disease morbidity and mortality and biomarkers associated with the disease.

This study is a six month prospective randomized double-blind, placebo-controlled trial with a six month extension phase of two dose levels of EPI743. The planned enrollment is for approximately 30 children with genetically confirmed Leigh syndrome. After 6 months of treatment, those children that were randomized to the placebo treatment arm will be re-randomized to one of the 2 active treatment arms.


Sponsor: Edison Pharmaceuticals Inc

Current Primary Outcome: Newcastle Pediatric Mitochondrial Disease Scale (NPMDS) Sections 1-3 [ Time Frame: 6 months ]

Change from baseline to six months will be compared between subjects in active treatment group and placebo group


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Neuromuscular function [ Time Frame: 6 months ]
    Gross Motor Function Measure; Barry Albright Dystonia Scale
  • Respiratory function [ Time Frame: 6 months ]
    Need for tracheostomy
  • Disease morbidity [ Time Frame: 6 months ]
    Total number of hospitalizations
  • Glutathione cycle biomarkers [ Time Frame: 6 months ]
    Blood levels of glutathione will be compared between placebo and treatment group
  • Number of dose limiting serious adverse events [ Time Frame: 6 months ]
  • Mortality [ Time Frame: 6 months ]
    Number of deaths


Original Secondary Outcome:

  • Neuromuscular function [ Time Frame: 6 months ]
    Gross Motor Function Measure; Barry Albright Dystonia Scale
  • Respiratory function [ Time Frame: 6 months ]
    Need for tracheostomy
  • Disease morbidity [ Time Frame: 6 months ]
    Total number of hospitalizations
  • Glutathione cycle biomarkers [ Time Frame: 6 months ]
    Blood levels of glutathione will be compared between placebo and treatment group
  • Number of dose limiting serious adverse events [ Time Frame: 6 months ]
  • Mortality
    Number of deaths


Information By: Edison Pharmaceuticals Inc

Dates:
Date Received: November 1, 2012
Date Started: October 2012
Date Completion:
Last Updated: August 1, 2016
Last Verified: August 2016