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EPI-743 for Mitochondrial Respiratory Chain Diseases

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01370447
Recruitment Status : Active, not recruiting
First Posted : June 10, 2011
Last Update Posted : July 17, 2019
Information provided by (Responsible Party):
Edison Pharmaceuticals Inc

Brief Summary:
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 or disease Intervention/treatment Phase
Mitochondrial Diseases Drug: EPI-743 Phase 2

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 87 participants
Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: None (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
Study Start Date : February 2010
Estimated Primary Completion Date : December 2021
Estimated Study Completion Date : December 2021

Arm Intervention/treatment
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

Primary Outcome Measures :
  1. 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

  2. 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.

  3. 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 :
  1. 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.

Information from the National Library of Medicine

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Ages Eligible for Study:   1 Year and older   (Child, Adult, Older Adult)
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01370447

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United States, California
Lucille Packard Children's Hospital
Palo Alto, California, United States, 94304
Sponsors and Collaborators
Edison Pharmaceuticals Inc
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Principal Investigator: Gregory Enns, MB, ChB Stanford University
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Responsible Party: Edison Pharmaceuticals Inc Identifier: NCT01370447    
Other Study ID Numbers: EPI-2009-1
First Posted: June 10, 2011    Key Record Dates
Last Update Posted: July 17, 2019
Last Verified: July 2019
Keywords provided by Edison Pharmaceuticals Inc:
Leigh syndrome
Inherited mitochondrial disease
Friedreich's ataxia
POLG1 deficiency
Additional relevant MeSH terms:
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Mitochondrial Diseases
Metabolic Diseases