for people ages 1 year and up (full criteria)
study started
estimated completion



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


Mitochondrial Diseases, Leigh syndrome, MELAS, Kearns-Sayre, Alper's, Inherited mitochondrial disease, Friedreich's ataxia, POLG1 deficiency, EPI-743


You can join if…

Open to people ages 1 year and up

  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

You CAN'T join if...

  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


  • UCLA
    Los Angeles California 90095 United States
  • UCSD
    San Diego California 92123 United States
  • CHOC Children's Clinic
    Orange California 92868 United States
  • Lucille Packard Children's Hospital
    Palo Alto California 94304 United States
  • Stanford Children's Health
    Stanford California 94304 United States


in progress, not accepting new patients
Start Date
Completion Date
PTC Therapeutics
Phase 2 Mitochondrial Diseases Research Study
Study Type
About 94 people participating
Last Updated