EPI-743 for Mitochondrial Respiratory Chain Diseases

NO_LONGER_AVAILABLE

Conditions studied: Mitochondrial Diseases

In brief

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.

Key facts

Study ID

NCT01370447

Run by

PTC Therapeutics

Last updated by the study team

2024-01-23

Who can join

Age: 1 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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

You may not qualify if…

• 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

Where it is running

• 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
• Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States
• MUSC — North Charleston, South Carolina, United States
• Baylor College of Medicine — Houston, Texas, United States
• UTH — Houston, Texas, United States
• Naval Hospital, Bremerton — Bremerton, Washington, United States
• Seattle Children's Hospital — Seattle, Washington, United States

Full record on ClinicalTrials.gov

Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.