EPI-743 for Mitochondrial Respiratory Chain Diseases

Not Recruiting

Trial ID: NCT01370447


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.

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

Stanford Investigator(s)


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

   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

   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


drug: EPI-743

Not Recruiting

Contact Information

Stanford University
School of Medicine
300 Pasteur Drive
Stanford, CA 94305
Greg Enns, MD
(650) 498-5798