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Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome
Not Recruiting
Trial ID: NCT01721733
Purpose
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)
Eligibility
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
Intervention(s):
drug: Placebo
drug: EPI-743 15 mg/kg
drug: EPI-743 5 mg/kg
Not Recruiting
Contact Information
Stanford University
School of Medicine
300 Pasteur Drive
Stanford,
CA
94305
Gregory Enns, MD
650-498-5798