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

Leigh Syndrome Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01721733
• Other study ID #: EPI743-12-002
• Status: Completed
• Phase: Phase 2
• Start date: October 31, 2012
• Est. completion date: May 31, 2015

Study information

• Verified date: August 2020
• Source: PTC Therapeutics
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

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.

Description:

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-randomized to one of the 2 active treatment arms.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 35
• Est. completion date: May 31, 2015
• Est. primary completion date: February 28, 2015
• Accepts healthy volunteers: No
• Gender: All
• Age group: 6 Years to 17 Years

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

Related Conditions & MeSH terms

• Leigh Disease
• Leigh Syndrome
• Syndrome

Intervention

Drug:
• Placebo

• EPI-743 15 mg/kg

• EPI-743 5 mg/kg

Locations

Country	Name	City	State
United States	Akron Children's Hospital	Akron	Ohio
United States	Baylor College of Medicine	Houston	Texas
United States	Stanford University	Palo Alto	California
United States	Seattle Children's Hospital	Seattle	Washington

Sponsors (2)

Lead Sponsor	Collaborator
PTC Therapeutics	Axio Research. LLC

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Newcastle Pediatric Mitochondrial Disease Scale (NPMDS) Sections 1-3	Change from baseline to six months will be compared between subjects in active treatment group and placebo group	6 months
Secondary	Neuromuscular function	Gross Motor Function Measure; Barry Albright Dystonia Scale	6 months
Secondary	Respiratory function	Need for tracheostomy	6 months
Secondary	Disease morbidity	Total number of hospitalizations	6 months
Secondary	Glutathione cycle biomarkers	Blood levels of glutathione will be compared between placebo and treatment group	6 months
Secondary	Number of dose limiting serious adverse events		6 months
Secondary	Mortality	Number of deaths	6 months

External Links

•   Edison Pharmaceuticals Web Site