NO_LONGER_AVAILABLENot Applicable

EPI-743 for Mitochondrial Respiratory Chain Diseases

United States

Plain-language 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.

Who can participate

Age range1 Year

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

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

Trial details

NCT IDNCT01370447

SponsorPTC Therapeutics

Sponsor typeINDUSTRY

Study typeEXPANDED_ACCESS

View on ClinicalTrials.gov More Mitochondrial Diseases trials