CompletedPhase 2

Long-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh Syndrome

United States30 participantsStarted 2014-01-31

Plain-language summary

EPI-743 in Leigh syndrome participants that participated in previous EPI743-12-002 (NCT01721733) study.

Age range1 Year – 18 Years

SexALL

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

✓. Diagnosis of Leigh syndrome with genetic confirmation
✓. Completion of EPI743-12-002 protocol and initiation of treatment within 14 days of Month 12 visit in EPI743-12-002 study
✓. Participant or participant's guardian able to consent and comply with protocol requirements
✓. Continued abstention from supplements excluded in EPI743-12-002 study
✓. Botox® is allowed if approved by the sponsor

✕. Allergy to EPI-743 or sesame oil
✕. Allergy to vitamin E
✕. Clinical history of bleeding or abnormal baseline prothrombin time (PT)/partial thromboplastin time (PTT)
✕. Hepatic insufficiency with liver function tests (LFTs) greater than two times upper limit of normal
✕. Renal insufficiency requiring dialysis
✕. End-stage cardiac failure
✕. Fat malabsorption syndromes precluding drug absorption
✕. Use of anticoagulant medications

Disease Severity as Measured by Newcastle Pediatric Mitochondrial Disease Scale (NPMDS) Sections 1-3 Score

Timeframe: Baseline up to Month 36

Number of Participants With Dose-Limiting Serious Adverse Events (SAEs)

Timeframe: Baseline up to Month 36

NCT IDNCT02352896

SponsorPTC Therapeutics

Sponsor typeINDUSTRY

Study typeINTERVENTIONAL

Primary completion2023-10-30