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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.
ClinicalTrials.gov Identifier: NCT01370447
Recruitment Status : Active, not recruiting
First Posted : June 10, 2011
Last Update Posted : March 1, 2023
Information provided by (Responsible Party):
PTC Therapeutics

Brief Summary:
This study will evaluate the safety and efficacy of EPI-743 in participants 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 : 94 participants
Allocation: N/A
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
Actual Study Start Date : February 28, 2010
Estimated Primary Completion Date : May 31, 2023
Estimated Study Completion Date : May 31, 2023

Arm Intervention/treatment
Experimental: EPI-743
Participants will receive EPI-743 at a dose of 50 milligrams (mg) at Day 1, 50 mg twice daily for 13 days, 100 mg on Day 15, and 100 mg twice daily until Day 28; either by mouth with a meal or via their G-tube with feeds. In the absence of clinical or laboratory indications of any safety concerns, participants will receive 100 mg EPI-743 three times daily until end of study.
Drug: EPI-743
EPI-743 (oral solution [100 mg/mL] or liquid-filled capsules [100 mg or 200 mg]) will be administered per dose and schedule specified in the arm.
Other Name: Vincerinone, Vatiquinone

Primary Outcome Measures :
  1. Number of Participants Experiencing Adverse Events [ Time Frame: Baseline up to Week 13 ]

Secondary Outcome Measures :
  1. Change From Baseline in Neurological Function, as Determined by Standard Neurological Examination at Week 13 [ Time Frame: Baseline, Week 13 ]
    Neurological exams to determine neuro-muscular function, which is typically compromised in participants with inherited mitochondrial diseases. Standard clinical neurological/neuromuscular assessment scales will be used

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

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. Participants with genetic diagnosis: Genetically confirmed diagnosis of Inherited mitochondrial respiratory chain disease
  2. Participants with clinical diagnosis: Diagnosis of inherited mitochondrial disease absent genetic confirmation; Specifically, participants 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. Participant or participant'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 prothrombin time (PT)/partial thromboplastin time (PTT) (excluding anticoagulation Rx)
  3. Hepatic insufficiency with liver function tests (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 ClinicalTrials.gov identifier (NCT number): NCT01370447

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United States, California
Los Angeles, California, United States, 90095
CHOC Children's Clinic
Orange, California, United States, 92868
Lucille Packard Children's Hospital
Palo Alto, California, United States, 94304
San Diego, California, United States, 92123
Stanford Children's Health
Stanford, California, United States, 94304
United States, Georgia
Emory University
Decatur, Georgia, United States, 30033
United States, New York
CUMC (Columbia University)
New York, New York, United States, 10032
United States, North Carolina
Carolinas Medical Center
Charlotte, North Carolina, United States, 28203
United States, Ohio
Akron Children's Hospital
Akron, Ohio, United States, 44308
Cleveland Clinic
Cleveland, Ohio, United States, 44195
United States, Pennsylvania
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
United States, South Carolina
North Charleston, South Carolina, United States, 29406
United States, Texas
Baylor College of Medicine
Houston, Texas, United States, 77030
Houston, Texas, United States, 77030
United States, Washington
Naval Hospital, Bremerton
Bremerton, Washington, United States, 98312
Seattle Children's Hospital
Seattle, Washington, United States, 98105
Sponsors and Collaborators
PTC Therapeutics
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Principal Investigator: Gregory Enns, MB, ChB Stanford University
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Responsible Party: PTC Therapeutics
ClinicalTrials.gov Identifier: NCT01370447    
Other Study ID Numbers: EPI-2009-1
First Posted: June 10, 2011    Key Record Dates
Last Update Posted: March 1, 2023
Last Verified: February 2023
Keywords provided by PTC Therapeutics:
Leigh syndrome
Inherited mitochondrial disease
Friedreich's ataxia
POLG1 deficiency
Additional relevant MeSH terms:
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Mitochondrial Diseases
Metabolic Diseases