Trial record 1 of 5 for:    "Leigh syndrome"
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Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome

This study is ongoing, but not recruiting participants.
Sponsor:
Collaborators:
Axio Research. LLC
Biosoteria
Information provided by (Responsible Party):
Edison Pharmaceuticals Inc
ClinicalTrials.gov Identifier:
NCT01721733
First received: November 1, 2012
Last updated: October 23, 2013
Last verified: October 2013
  Purpose

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.


Condition Intervention Phase
Leigh Syndrome
Drug: Placebo
Drug: EPI-743 15 mg/kg
Drug: EPI-743 5 mg/kg
Phase 2

Study Type: Interventional
Study Design: Allocation: Randomized
Endpoint Classification: Safety/Efficacy Study
Intervention Model: Crossover Assignment
Masking: Double Blind (Subject, Caregiver, Investigator, Outcomes Assessor)
Primary Purpose: Treatment
Official Title: A Phase 2B Randomized, Placebo Controlled, Double Blind Clinical Trial of EPI-743 in Children With Leigh Syndrome

Resource links provided by NLM:


Further study details as provided by Edison Pharmaceuticals Inc:

Primary Outcome Measures:
  • Newcastle Pediatric Mitochondrial Disease Scale (NPMDS) Sections 1-3 [ Time Frame: 6 months ] [ Designated as safety issue: No ]
    Change from baseline to six months will be compared between subjects in active treatment group and placebo group


Secondary Outcome Measures:
  • Neuromuscular function [ Time Frame: 6 months ] [ Designated as safety issue: No ]
    Gross Motor Function Measure; Barry Albright Dystonia Scale

  • Respiratory function [ Time Frame: 6 months ] [ Designated as safety issue: No ]
    Need for tracheostomy

  • Disease morbidity [ Time Frame: 6 months ] [ Designated as safety issue: No ]
    Total number of hospitalizations

  • Glutathione cycle biomarkers [ Time Frame: 6 months ] [ Designated as safety issue: No ]
    Blood levels of glutathione will be compared between placebo and treatment group

  • Number of dose limiting serious adverse events [ Time Frame: 6 months ] [ Designated as safety issue: Yes ]
  • Mortality [ Designated as safety issue: No ]
    Number of deaths


Estimated Enrollment: 30
Study Start Date: October 2012
Estimated Study Completion Date: May 2014
Estimated Primary Completion Date: February 2014 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Placebo Comparator: Placebo
Each patient will receive a volume of placebo based on weight
Drug: Placebo
Active Comparator: 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.
Drug: EPI-743 15 mg/kg
Active Comparator: 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.
Drug: EPI-743 5 mg/kg

Detailed 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.

  Eligibility

Ages Eligible for Study:   up to 17 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01721733

Locations
United States, California
Stanford University
Palo Alto, California, United States, 94304
United States, Ohio
Akron Children's Hospital
Akron, Ohio, United States, 44308
United States, Texas
Baylor College of Medicine
Houston, Texas, United States, 77030
United States, Washington
Seattle Children's Hospital
Seattle, Washington, United States, 98105
Sponsors and Collaborators
Edison Pharmaceuticals Inc
Axio Research. LLC
Biosoteria
  More Information

Additional Information:
No publications provided

Responsible Party: Edison Pharmaceuticals Inc
ClinicalTrials.gov Identifier: NCT01721733     History of Changes
Other Study ID Numbers: EPI743-12-002
Study First Received: November 1, 2012
Last Updated: October 23, 2013
Health Authority: United States: Food and Drug Administration

Keywords provided by Edison Pharmaceuticals Inc:
EPI743
Leigh syndrome
respiratory chain disease
mitochondrial disorders

Additional relevant MeSH terms:
Leigh Disease
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Pyruvate Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
Metabolic Diseases
Mitochondrial Diseases

ClinicalTrials.gov processed this record on July 29, 2014