©2022 Stanford Medicine
EPI-743 for Mitochondrial Respiratory Chain Diseases
Not Recruiting
Trial ID: NCT01370447
Purpose
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)
Eligibility
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
Intervention(s):
drug: EPI-743
Not Recruiting
Contact Information
Stanford University
School of Medicine
300 Pasteur Drive
Stanford,
CA
94305
Greg Enns, MD
(650) 498-5798