NCT01721733

Brief 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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
35

participants targeted

Target at P25-P50 for phase_2

Timeline
Completed

Started Oct 2012

Geographic Reach
1 country

4 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

October 31, 2012

Completed
1 day until next milestone

First Submitted

Initial submission to the registry

November 1, 2012

Completed
5 days until next milestone

First Posted

Study publicly available on registry

November 6, 2012

Completed
2.3 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 28, 2015

Completed
3 months until next milestone

Study Completion

Last participant's last visit for all outcomes

May 31, 2015

Completed
Last Updated

August 31, 2020

Status Verified

August 1, 2020

Enrollment Period

2.3 years

First QC Date

November 1, 2012

Last Update Submit

August 24, 2020

Conditions

Leigh Syndrome

Keywords

EPI743Leigh syndromerespiratory chain diseasemitochondrial disorders

Outcome Measures

Primary Outcomes (1)

  • 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 Outcomes (6)

  • Neuromuscular function

    6 months

  • Respiratory function

    6 months

  • Disease morbidity

    6 months

  • Glutathione cycle biomarkers

    6 months

  • Number of dose limiting serious adverse events

    6 months

  • +1 more secondary outcomes

Study Arms (3)

Placebo

PLACEBO COMPARATOR

Each patient will receive a volume of placebo based on weight

Drug: Placebo

EPI-743 15 mg/kg

ACTIVE COMPARATOR

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.

Drug: EPI-743 15 mg/kg

EPI-743 5 mg/kg

ACTIVE COMPARATOR

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.

Drug: EPI-743 5 mg/kg

Interventions

PlaceboDRUG
Placebo
EPI-743 15 mg/kgDRUG
EPI-743 15 mg/kg
EPI-743 5 mg/kgDRUG
EPI-743 5 mg/kg

Eligibility Criteria

Age6 Years - 17 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17)

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (4)

Stanford University

Palo Alto, California, 94304, United States

Location

Akron Children's Hospital

Akron, Ohio, 44308, United States

Location

Baylor College of Medicine

Houston, Texas, 77030, United States

Location

Seattle Children's Hospital

Seattle, Washington, 98105, United States

Location

Related Links

MeSH Terms

Conditions

Leigh DiseaseMitochondrial Diseases

Interventions

alpha-tocotrienol quinone

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesPyruvate Metabolism, Inborn ErrorsCarbohydrate Metabolism, Inborn ErrorsMetabolic DiseasesNutritional and Metabolic Diseases

Study Design

Study Type
interventional
Phase
phase 2
Allocation
RANDOMIZED
Masking
QUADRUPLE
Who Masked
PARTICIPANT, CARE PROVIDER, INVESTIGATOR, OUTCOMES ASSESSOR
Purpose
TREATMENT
Intervention Model
CROSSOVER
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

November 1, 2012

First Posted

November 6, 2012

Study Start

October 31, 2012

Primary Completion

February 28, 2015

Study Completion

May 31, 2015

Last Updated

August 31, 2020

Record last verified: 2020-08

Locations

US(4)