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


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Trial ID: NCT01721733


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.

Official Title

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

Stanford Investigator(s)


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

   - 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


drug: Placebo

drug: EPI-743 15 mg/kg

drug: EPI-743 5 mg/kg


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Contact Information

Stanford University
School of Medicine
300 Pasteur Drive
Stanford, CA 94305
Gregory Enns, MD