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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

Status
NO_LONGER_AVAILABLE
Phases
Unknown
Study type
Expanded Access
Source
ClinicalTrials.gov
Registry ID
NCT01370447
Enrollment
Unknown
Registered
2011-06-10
Start date
Unknown
Completion date
Unknown
Last updated
2024-01-23

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Mitochondrial Diseases

Keywords

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

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.

Interventions

DRUGEPI-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.

Sponsors

PTC Therapeutics
Lead SponsorINDUSTRY

Eligibility

Sex/Gender
ALL
Age
1 Years to No maximum
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

Countries

United States

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026