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

• Status: Completed
• Trial end date: 2015-05-31
• Target enrollment: 0
• Participant gender: All

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.

• Phase: Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Edison Pharmaceuticals Inc; PTC Therapeutics
• Collaborator: Axio Research. LLC
• Treatments: Ubiquinone

Criteria

Inclusion Criteria:

• Clinical and MRI diagnosis of Leigh syndrome

• Moderate disease severity based on NPMDS score

• Age under 18 years

• Documented evidence of disease progression within 12 month of enrollment

• Availability of MRI that confirms necrotizing encephalopathy

• Patient or guardian able to consent and comply with protocol requirements

• Abstention from Coenzyme Q10, Vitamins C & E, lipoic acid and Idebenone

Exclusion Criteria:

• Allergy to EPI-743, Vitamin E or sesame oil

• History of bleeding abnormalities or abnormal PT/PTT

• Diagnosis of concurrent inborn error of metabolism

• Previous tracheostomy

• Ventilator dependent or use of noninvasive ventilatory support w/in 1 month of enrollment

• LFTs greater than 2 times ULN

• Renal insufficiency

• End stage cardiac failure

• Fat malabsorption syndrome

• Use of anticoagulant medications

• Abstention from Botox for 6 months prior to enrollment and for duration of study