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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

PHASE2

Total Enrollment

35 participants

Study Classification

INTERVENTIONAL

Study Start Date

2012-10-31

Study Completion Date

2015-05-31

Brief Summary

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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.

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Detailed Description

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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.

Conditions

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Leigh Syndrome

Study Design

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Allocation Method

RANDOMIZED

Intervention Model

CROSSOVER

Primary Study Purpose

TREATMENT

Blinding Strategy

QUADRUPLE

Participants Caregivers Investigators Outcome Assessors

Study Groups

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Placebo

Each patient will receive a volume of placebo based on weight

Group Type PLACEBO_COMPARATOR

Placebo

Intervention Type DRUG

EPI-743 15 mg/kg

Each subjects dose will be based on their weight. 15 mg/kg with a maximum dose of 200 mg per dose, t.i.d., will be administered in this treatment arm.

Group Type ACTIVE_COMPARATOR

EPI-743 15 mg/kg

Intervention Type DRUG

EPI-743 5 mg/kg

Each subjects dose will be based on their weight. 5 mg/kg with a maximum dose of 100 mg per dose, t.i.d., will be administered in this treatment arm.

Group Type ACTIVE_COMPARATOR

EPI-743 5 mg/kg

Intervention Type DRUG

Interventions

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Placebo

Intervention Type DRUG

EPI-743 15 mg/kg

Intervention Type DRUG

EPI-743 5 mg/kg

Intervention Type DRUG

Eligibility Criteria

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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

Minimum Eligible Age

6 Years

Maximum Eligible Age

17 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No