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EPI-743 for Mitochondrial Respiratory Chain Diseases

This study is ongoing, but not recruiting participants.
Information provided by (Responsible Party):
Edison Pharmaceuticals Inc Identifier:
First received: June 7, 2011
Last updated: March 18, 2016
Last verified: March 2016
This study evaluates the safety and efficacy of EPI-743 in patients with severe mitochondrial respiratory chain diseases who are considered to be within 90 days of end-of-life care.

Condition Intervention Phase
Mitochondrial Diseases
Drug: EPI-743
Phase 2

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: Emergency Use Protocol for EPI-743 in Acutely Ill Patients With Inherited Mitochondrial Respiratory Chain Disease Within 90 Days of End-of-Life Care

Resource links provided by NLM:

Further study details as provided by Edison Pharmaceuticals Inc:

Primary Outcome Measures:
  • Change in neuromuscular function from baseline to 13 weeks [ Time Frame: Monthly for 13 weeks ]
    Neurological exams to determine neuro-muscular function, which is typically compromised in patients with inherited mitochondrial diseases. Standard clinical neurological/neuromuscular assessment scales will be used

  • Number of subjects experiencing adverse events [ Time Frame: Al least monthly for 13 weeks ]
    Standard laboratory tests to evaluate organ function will be used to assess adverse effects on organ systems and function. Electrocardiograms will be recorded to assess any effect on cardiac conduction. Subjects will be monitored for any clinical adverse signs at least monthly, and more frequently if patient condition warrants. In each case of reported adverse events, an assessment will be made if the event is due to EPI-743 administration or to underlying/intercurrent disease.

  • Change in Newcastle Pediatric Mitochondrial Disease Score from baseline at 13 weeks [ Time Frame: At baseline and at 13 weeks ]
    The Newcastle Pediatric Mitochondrial Disease Score (NPMDS)is a validated scale to assess the clinical severity of mitochondrial disease. The NPMDS will be scored at baseline and at 13 weeks, and the difference will be assessed as improved, stable or deteriorated.

Secondary Outcome Measures:
  • Pharmacokinetics of EPI-743 after first dose and at steady state [ Time Frame: At the beginning of the study (baseline) and after 4 weeks of treatment ]
    Serial blood samples (4-8 samples, 1.5 mL)will be drawn after the first dose of 50 mg and after the first dose escalation to 100 mg. Plasma concentrations ofEPI-743 will be analyzed and pharmacokinetic parameters calculated.

Enrollment: 87
Study Start Date: February 2010
Estimated Study Completion Date: December 2017
Estimated Primary Completion Date: December 2017 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: EPI-743 Treatment
Single treatment arm; All enrolled subjects will be treated with EPI-743
Drug: EPI-743
EPI-743 is administered as a dose escalation from 50 mg bid to 100 mg tid


Ages Eligible for Study:   1 Year and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion criteria:

  1. Patients with genetic diagnosis: Genetically confirmed diagnosis of Inherited mitochondrial respiratory chain disease
  2. Patients with clinical diagnosis: Diagnosis of inherited mitochondrial disease absent genetic confirmation; Specifically, subjects must meet the diagnostic criteria of "definite" or "probable" mitochondrial disease as defined by Bernier et al., 2002
  3. Deemed by principal investigator to be within 90 days of end-of-life hospice/terminal care
  4. Male or female age > one year
  5. Hematocrit within normal range for age group
  6. Agreement to use contraception if within reproductive years
  7. Patient or patient's guardian able to consent and comply with protocol requirements
  8. Presence of caregiver to ensure study compliance
  9. Abstention from use of all pill-form dietary supplements and non-prescribed medications (except as allowed by the investigator)
  10. Abstention from foods or beverages or bars fortified with Coenzyme Q10, vitamin E, super-fortified "functional" foods or beverages
  11. Abstention from use of idebenone
  12. Clinically staged with a Mitochondrial Disease Scale such as the Newcastle Score

Exclusion criteria:

  1. Allergy to EPI-743, vitamin E or sesame oil
  2. Clinical history of bleeding or abnormal PT/PTT (excluding anticoagulation Rx)
  3. Hepatic insufficiency with LFTs greater than two times normal
  4. Renal insufficiency requiring dialysis
  5. Fat malabsorption syndromes precluding drug absorption
  6. Any other concurrent inborn errors of metabolism
  7. Severe end-organ hypo-perfusion syndrome secondary to cardiac failure resulting in lactic acidosis
  8. Pregnancy
  Contacts and Locations
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Please refer to this study by its identifier: NCT01370447

United States, California
Lucille Packard Children's Hospital
Palo Alto, California, United States, 94304
Sponsors and Collaborators
Edison Pharmaceuticals Inc
Principal Investigator: Gregory Enns, MB, ChB Stanford University
  More Information

Responsible Party: Edison Pharmaceuticals Inc Identifier: NCT01370447     History of Changes
Other Study ID Numbers: EPI-2009-1
Study First Received: June 7, 2011
Last Updated: March 18, 2016

Keywords provided by Edison Pharmaceuticals Inc:
Leigh syndrome
Inherited mitochondrial disease
Friedreich's ataxia
POLG1 deficiency

Additional relevant MeSH terms:
Mitochondrial Diseases
Metabolic Diseases
Growth Substances
Physiological Effects of Drugs processed this record on April 26, 2017