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

Completed · Phase 2 · Has a placebo group

Conditions studied: Leigh Syndrome

In brief

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.

Key facts

Study ID: NCT01721733
Run by: PTC Therapeutics
People needed: 35
Starts: 2012-10-31
Expected to finish: 2015-05-31
Last updated by the study team: 2020-08-31

Who can join

Age: 6 and older, up to 17. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

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

You may not qualify if…

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

Where it is running

Stanford University — Palo Alto, California, United States
Akron Children's Hospital — Akron, Ohio, United States
Baylor College of Medicine — Houston, Texas, United States
Seattle Children's Hospital — Seattle, Washington, United States

Full record on ClinicalTrials.gov

Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.