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EPI-743 for Mitochondrial Respiratory Chain Diseases | Clinical Trials | Clareo Health

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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

NCT01370447•PTC Therapeutics

View on ClinicalTrials.gov

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.

Eligibility

Age

1 - No limit years

Sex

ALL

Healthy Volunteers

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
+2 more criteria

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

Locations (16)

UCLA

Los Angeles, California, United States

CHOC Children's Clinic

Orange, California, United States

Lucille Packard Children's Hospital

Palo Alto, California, United States

UCSD

San Diego, California, United States

Stanford Children's Health

Stanford, California, United States

Emory University

Decatur, Georgia, United States

CUMC (Columbia University)

New York, New York, United States

Carolinas Medical Center

Charlotte, North Carolina, United States

Akron Children's Hospital

Akron, Ohio, United States

Cleveland Clinic

Cleveland, Ohio, United States

Key Dates

Last Updated

January 23, 2024

Conditions

Mitochondrial Diseases

Interventions

EPI-743

DRUG

Global Registry and Natural History Study for Mitochondrial Disorders

NCT05554835

Mitochondrial DiseasesKearns-Sayre Syndrome+16 more

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RECRUITINGPHASE2

Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome

NCT04802707

Mitochondrial DiseasesMitochondrial Encephalomyopathy+3 more

View study

Data Source & Attribution

This clinical trial information is sourced from ClinicalTrials.gov, a service of the U.S. National Institutes of Health.

ClinicalTrials.gov last update: January 23, 2024Data synced to Clareo: March 29, 2026

Modifications: This data has been reformatted for display purposes. Eligibility criteria have been parsed into inclusion/exclusion sections. Location data has been geocoded to enable distance-based search. For the authoritative and most current information, please visit ClinicalTrials.gov.

Neither the United States Government nor Clareo Health make any warranties regarding the data. Check ClinicalTrials.gov frequently for updates.

View ClinicalTrials.gov Terms and Conditions

EPI-743 for Mitochondrial Respiratory Chain Diseases

Inclusion Criteria

Exclusion Criteria

Global Registry and Natural History Study for Mitochondrial Disorders

Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome

Enhancement of Quality of Work And Life

Combating the Diagnostic Impasse in Mitochondrial Diseases: a Transcriptomic Approach in Fibroblasts and Blood Cells

MITOMICS : a Multi-OMICS Approach for the Diagnosis of Mitochondrial Diseases

The Natural History of Mitochondrial Diseases