Title
EPI-743 for Mitochondrial Respiratory Chain Diseases
Emergency Use Protocol for EPI-743 in Acutely Ill Patients With Inherited Mitochondrial Respiratory Chain Disease Within 90 Days of End-of-Life Care
Phase
Phase 2Lead Sponsor
BioelectronStudy Type
InterventionalStatus
Completed No Results PostedIndication/Condition
Mitochondrial DiseasesIntervention/Treatment
vatiquinone ...Study Participants
94This 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.
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.
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.
Inclusion criteria: Participants with genetic diagnosis: Genetically confirmed diagnosis of Inherited mitochondrial respiratory chain disease 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 Deemed by principal investigator to be within 90 days of end-of-life hospice/terminal care Male or female age > one year Hematocrit within normal range for age group Agreement to use contraception if within reproductive years Participant or participant's guardian able to consent and comply with protocol requirements Presence of caregiver to ensure study compliance Abstention from use of all pill-form dietary supplements and non-prescribed medications (except as allowed by the investigator) Abstention from foods or beverages or bars fortified with Coenzyme Q10, vitamin E, super-fortified "functional" foods or beverages Abstention from use of idebenone Clinically staged with a Mitochondrial Disease Scale such as the Newcastle Score Exclusion criteria: Allergy to EPI-743, vitamin E or sesame oil Clinical history of bleeding or abnormal prothrombin time (PT)/partial thromboplastin time (PTT) (excluding anticoagulation Rx) Hepatic insufficiency with liver function tests (LFTs) greater than two times normal Renal insufficiency requiring dialysis Fat malabsorption syndromes precluding drug absorption Any other concurrent inborn errors of metabolism Severe end-organ hypo-perfusion syndrome secondary to cardiac failure resulting in lactic acidosis Pregnancy
