Trial Search Results

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

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.

Stanford is currently accepting patients for this trial.

Lead Sponsor:

PTC Therapeutics

Collaborator: Axio Research. LLC

Stanford Investigator(s):


  • Drug: Placebo
  • Drug: EPI-743 15 mg/kg
  • Drug: EPI-743 5 mg/kg


Phase 2


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

Ages Eligible for Study

6 Years - 17 Years

Genders Eligible for Study


Now accepting new patients

Contact Information

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