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

Launched by PTC THERAPEUTICS · Nov 5, 2012

Keywords

ClinConnect 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-ran...

Gender

ALL

Eligibility 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